MFSD8 p.Arg37=
c.111A>G · VCV4968618
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00401%, afr)
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 0.1 | GERP -0.76, phastCons 0.98 |
| Overall | ||
| CADD | 9.196 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00401%
African / African-American · 3/74,878 alleles
Filtering AF
0.00106%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000495%
Overall
0.000186%
3/1,611,932 alleles · very rare
exomes 0/1,459,770 · genomes 3/152,162 · joint denominator
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
- MFSD8
- Protein
- p.Arg37=
- Coding
- c.111A>G
- MANE Select
- NM_001371596
- Type
- single nucleotide variant
- Location
- chr4:127957544 (GRCh38)
- Gene constraint
- LOEUF 1.005 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.20
Similar variants
- MFSD8 p.Arg37Ile Uncertain significance ★ ⚠ same residue
- MFSD8 p.Arg37Lys Uncertain significance ★ ⚠ same residue
- MFSD8 c.1102+1G>A Likely pathogenic ★★ same type
- MFSD8 c.1102+2T>C Pathogenic/Likely pathogenic ★★ same type
- MFSD8 c.1350+2T>C Pathogenic/Likely pathogenic ★★ same type
- MFSD8 c.154+1G>A Likely pathogenic ★★ same type
- MFSD8 c.198+2T>C Pathogenic/Likely pathogenic ★★ same type
- MFSD8 c.439+2T>A Likely pathogenic ★★ 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/mfsd8-p-arg37 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown