R9P (p.Arg9Pro) variant of KRT4 (Keratin, type II cytoskeletal 4)
R9P (p.Arg9Pro) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R9P (p.Arg9Pro) variant details
- p.Arg9Pro
- rs950673957
- NCI-TCGA Cosmic COSV5340
- TOPMed rs950673957
- gnomAD rs950673957
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.51
- CADD 23.10
- PolyPhen-2 0.92
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available