M112V (p.Met112Val) variant of SOX10 (Transcription factor SOX-10)
M112V (p.Met112Val) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Waardenburg syndrome type 4C; PCWH syndrome; Waardenburg syndrome type 2E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
M112V (p.Met112Val) variant details
- p.Met112Val
- rs1555939439
- ClinGen CA411500576
- ClinVar RCV000660278
- ClinVar RCV000765648
- Conflicting interpretations
- Waardenburg syndrome type 4C; PCWH syndrome; Waardenburg syndrome type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Conflicting classifications of pathogenicity (Waardenburg syndrome type 4C; PCWH syndrome; Waardenburg syndrom)
- EBI: Variant of uncertain significance (in WS2E and PCWH)
- UniProt: Uncertain significance (in WS2E and PCWH)
- Structural context available