W142C (p.Trp142Cys) variant of SOX10 (Transcription factor SOX-10)
W142C (p.Trp142Cys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
W142C (p.Trp142Cys) variant details
- p.Trp142Cys
- rs1555939403
- ClinGen CA411499984
- ClinVar RCV000985243
- ClinVar RCV005092963
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available