M112R (p.Met112Arg) variant of SOX10 (Transcription factor SOX-10)
M112R (p.Met112Arg) 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 2E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
M112R (p.Met112Arg) variant details
- p.Met112Arg
- rs1932463844
- ClinGen CA411500558
- ClinVar RCV001290169
- Ensembl rs1932463844
- Likely pathogenic
- Waardenburg syndrome type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Waardenburg syndrome type 2E)
- EBI: Likely pathogenic (in WS2E and PCWH)
- UniProt: Likely pathogenic (in WS2E and PCWH)
- Structural context available