Y265C (p.Tyr265Cys) variant of MITF (O75030)
Y265C (p.Tyr265Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Y265C (p.Tyr265Cys) variant details
- p.Tyr265Cys
- rs1057518765
- ClinGen CA16043400
- ClinVar RCV000415280
- gnomAD rs1057518765
- Likely pathogenic
- Waardenburg syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.62
- CADD 29.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Waardenburg syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available