M112I (p.Met112Ile) variant of SOX10 (Transcription factor SOX-10)
M112I (p.Met112Ile) 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 0.94 / 1. The record also includes published literature and structural context.
M112I (p.Met112Ile) variant details
- p.Met112Ile
- rs2145777042
- ClinGen CA411500554
- ClinVar RCV001775030
- Ensembl rs2145777042
- Likely pathogenic
- Waardenburg syndrome type 4C
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Waardenburg syndrome type 4C)
- EBI: Pathogenic (in WS2E and PCWH)
- UniProt: Pathogenic (in WS2E and PCWH)
- Structural context available
- Cited in: Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. (PMID 21898658)
- Cited in: Waardenburg Syndrome Type I. (PMID 20301703)