G351R (p.Gly351Arg) variant of MITF (O75030)
G351R (p.Gly351Arg) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Waardenburg syndrome type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G351R (p.Gly351Arg) variant details
- p.Gly351Arg
- NCI-TCGA Cosmic COSV5883
- cosmic curated COSV58833
- Ensembl rs2107536931
- Likely pathogenic
- Waardenburg syndrome type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Waardenburg syndrome type 2A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available