R55C (p.Arg55Cys) variant of KRT3 (Keratin, type II cytoskeletal 3)
R55C (p.Arg55Cys) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R55C (p.Arg55Cys) variant details
- p.Arg55Cys
- ExAC rs768388285
- TOPMed rs768388285
- gnomAD rs768388285
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.40
- CADD 22.80
- PolyPhen-2 0.46
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available