G39V (p.Gly39Val) variant of SOX10 (Transcription factor SOX-10)
G39V (p.Gly39Val) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G39V (p.Gly39Val) variant details
- p.Gly39Val
- gnomAD rs1436063707
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.14
- CADD 21.20
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available