R161H (p.Arg161His) variant of SOX10 (Transcription factor SOX-10)
R161H (p.Arg161His) 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; Waardenburg syndrome type 2E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R161H (p.Arg161His) variant details
- p.Arg161His
- rs750566714
- ClinGen CA10228669
- cosmic curated COSV62806
- ClinVar RCV001095698
- Conflicting interpretations
- not provided; Waardenburg syndrome type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.98
- MetaLR 0.44
- MetaSVM -0.04
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Waardenburg syndrome type 2E)
- EBI: Pathogenic (in WS2E)
- UniProt: Pathogenic (in WS2E)
- Population evidence available
- Structural context available
- Cited in: Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. (PMID 21898658)
- Cited in: A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different… (PMID 10441344)