G61S (p.Gly61Ser) variant of SOX10 (Transcription factor SOX-10)
G61S (p.Gly61Ser) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; PCWH syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G61S (p.Gly61Ser) variant details
- p.Gly61Ser
- rs866240813
- ClinGen CA324166571
- ClinVar RCV001328563
- ClinVar RCV003135983
- Uncertain significance
- not provided; PCWH syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.28
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; PCWH syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available