G41V (p.Gly41Val) variant of SOX10 (Transcription factor SOX-10)
G41V (p.Gly41Val) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Waardenburg syndrome; not provided; PCWH syndrome. 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.
G41V (p.Gly41Val) variant details
- p.Gly41Val
- rs199750760
- ClinGen CA10228725
- ClinVar RCV000277103
- ClinVar RCV000325156
- Benign/Likely benign
- Waardenburg syndrome; not provided; PCWH syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.17
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.07
- ClinVar: Benign/Likely benign (Waardenburg syndrome; not provided; PCWH syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available