W142S (p.Trp142Ser) variant of SOX10 (Transcription factor SOX-10)
W142S (p.Trp142Ser) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PCWH syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
W142S (p.Trp142Ser) variant details
- p.Trp142Ser
- rs886039664
- ClinGen CA411499989
- ClinVar RCV001170070
- Ensembl rs886039664
- Pathogenic
- PCWH syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (PCWH syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available