C104G (p.Cys104Gly) variant of KRT4 (Keratin, type II cytoskeletal 4)
C104G (p.Cys104Gly) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
C104G (p.Cys104Gly) variant details
- p.Cys104Gly
- gnomAD rs1381704972
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.35
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available