L122V (p.Leu122Val) variant of SOX10 (Transcription factor SOX-10)
L122V (p.Leu122Val) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Waardenburg syndrome type 4C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
L122V (p.Leu122Val) variant details
- p.Leu122Val
- rs1555939426
- ClinGen CA411500332
- ClinVar RCV000660279
- Ensembl rs1555939426
- Likely pathogenic
- Waardenburg syndrome type 4C
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Waardenburg syndrome type 4C)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available