A132G (p.Ala132Gly) variant of SOX10 (Transcription factor SOX-10)
A132G (p.Ala132Gly) 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 0.95 / 1. The record also includes structural context.
A132G (p.Ala132Gly) variant details
- p.Ala132Gly
- rs2145776948
- ClinGen CA411500173
- ClinVar RCV001799539
- NCI-TCGA TCGA novel
- Pathogenic
- PCWH syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (PCWH syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available