S56R (p.Ser56Arg) variant of KRT3 (Keratin, type II cytoskeletal 3)
S56R (p.Ser56Arg) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S56R (p.Ser56Arg) variant details
- p.Ser56Arg
- ExAC rs780288321
- TOPMed rs780288321
- gnomAD rs780288321
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.55
- CADD 23.80
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available