C104R (p.Cys104Arg) variant of KRT4 (Keratin, type II cytoskeletal 4)
C104R (p.Cys104Arg) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
C104R (p.Cys104Arg) variant details
- p.Cys104Arg
- gnomAD rs1381704972
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.55
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available