V112F (p.Val112Phe) variant of KRT4 (Keratin, type II cytoskeletal 4)
V112F (p.Val112Phe) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
V112F (p.Val112Phe) variant details
- p.Val112Phe
- TOPMed rs1292366339
- gnomAD rs1292366339
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.76
- CADD 24.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available