C130Y (p.Cys130Tyr) variant of KRT6A (Keratin, type II cytoskeletal 6A)
C130Y (p.Cys130Tyr) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C130Y (p.Cys130Tyr) variant details
- p.Cys130Tyr
- ExAC rs746061780
- TOPMed rs746061780
- gnomAD rs746061780
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.57
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available