C130F (p.Cys130Phe) variant of KRT6A (Keratin, type II cytoskeletal 6A)
C130F (p.Cys130Phe) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
C130F (p.Cys130Phe) variant details
- p.Cys130Phe
- ExAC rs746061780
- TOPMed rs746061780
- gnomAD rs746061780
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.59
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available