V92M (p.Val92Met) variant of SOX10 (Transcription factor SOX-10)
V92M (p.Val92Met) 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 not provided; not specified; Waardenburg syndrome type 2E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V92M (p.Val92Met) variant details
- p.Val92Met
- rs142113652
- ClinGen CA10228701
- cosmic curated COSV61005
- ClinVar RCV002289238
- Conflicting interpretations
- not provided; not specified; Waardenburg syndrome type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.54
- CADD 26.20
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Waardenburg syndrome type 2E)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available