F52V (p.Phe52Val) variant of KRT10 (Keratin, type I cytoskeletal 10)
F52V (p.Phe52Val) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
F52V (p.Phe52Val) variant details
- p.Phe52Val
- NCI-TCGA TCGA novel
- Ensembl rs1905475396
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.29
- CADD 18.10
- PolyPhen-2 0.08
- SIFT 0.09
- UniProt: Variant assessed as somatic; high impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)