MRTFA p.Pro238=
c.714G>A · rs150826874 · VCV1170706
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.28%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -9.4 | GERP -5.1 |
| Overall | ||
| CADD | 5.413 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.28%
Middle Eastern · 77/6,014 alleles
Filtering AF
1.05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.965%
Overall
0.0656%
1,056/1,610,316 alleles · low-frequency
exomes 917/1,457,996 · genomes 139/152,320 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 1.28% | 78 |
| Ashkenazi Jewishnot grpmax-eligible | 0.252% | 397 |
| Admixed American | 0.2% | 500 |
| Remaining individualsnot grpmax-eligible | 0.159% | 630 |
| Amishnot grpmax-eligible | 0.11% | 912 |
| South Asian | 0.0585% | 1,708 |
| European (non-Finnish) | 0.0506% | 1,978 |
| African / African-American | 0.0441% | 2,266 |
| Finnishnot grpmax-eligible | 0.00625% | 16,003 |
| East Asian | 0.00224% | 44,624 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- MRTFA
- Protein
- p.Pro238=
- Coding
- c.714G>A
- MANE Select
- NM_020831
- dbSNP
- rs150826874
- Type
- single nucleotide variant
- Location
- chr22:40424269 (GRCh38)
- Gene constraint
- LOEUF 0.389 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 56.59 · 2 PDB
- Residue 238
- the 'mediates interaction with scai and actb' region; the 'disordered' region
Similar variants
- MRTFA p.Pro238Leu Uncertain significance ★★ ⚠ same residue
- MRTFA p.Ala352Thr Uncertain significance ★★ ⚠ same type
- MRTFA p.Ala360Thr Uncertain significance ★★ ⚠ same type
- MRTFA p.Ala429Ser Uncertain significance ★★ ⚠ same type
- MRTFA p.Ala479Gly Uncertain significance ★★ ⚠ same type
- MRTFA p.Ala479Val Uncertain significance ★★ ⚠ same type
- MRTFA p.Ala534Thr Uncertain significance ★★ ⚠ same type
- MRTFA p.Ala537Val Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/mrtfa-p-pro238 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown