A31S (p.Ala31Ser) variant of SOX9 (Transcription factor SOX-9)
A31S (p.Ala31Ser) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- TOPMed rs1257248748
- gnomAD rs1257248748
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.28
- MetaLR 0.19
- MetaSVM -0.85
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available