SRP72 p.Pro335=
c.1005C>T · rs201570324 · VCV1337444
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0586%, 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 -0.27 | GERP -3.7, phastCons 0.44 |
| Overall | ||
| CADD | 11.76 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0586%
African / African-American · 44/75,028 alleles
Filtering AF
0.0448%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.04%
Overall
0.00452%
73/1,614,136 alleles · ultra-rare
exomes 44/1,461,866 · genomes 29/152,270 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0586% | 1,705 |
| Middle Eastern | 0.0165% | 6,060 |
| East Asian | 0.00891% | 11,220 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,500 |
| Admixed American | 0.00333% | 30,006 |
| Finnishnot grpmax-eligible | 0.00156% | 64,028 |
| European (non-Finnish) | 0.00127% | 78,669 |
| South Asian | 0.0011% | 91,076 |
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
- SRP72
- Protein
- p.Pro335=
- Coding
- c.1005C>T
- MANE Select
- NM_006947
- dbSNP
- rs201570324
- Type
- single nucleotide variant
- Location
- chr4:56484783 (GRCh38)
- Gene constraint
- LOEUF 0.58 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 82.76 · 7 PDB
Similar variants
- SRP72 c.1502+1G>A Uncertain significance ★★ same type
- SRP72 c.1640+4A>G Uncertain significance ★★ same type
- SRP72 c.768-9T>G Uncertain significance ★★ same type
- SRP72 p.Ala13Thr Uncertain significance ★★ ⚠ same type
- SRP72 p.Ala156Gly Uncertain significance ★★ ⚠ same type
- SRP72 p.Ala185Val Uncertain significance ★★ ⚠ same type
- SRP72 p.Ala291Val Uncertain significance ★★ ⚠ same type
- SRP72 p.Ala314Val 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/srp72-p-pro335 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown