I23V (p.Ile23Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
I23V (p.Ile23Val) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.12 / 1. The record also includes population frequency data and structural context.
I23V (p.Ile23Val) variant details
- p.Ile23Val
- rs1463762295
- gnomAD rs1463762295
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.10
- CADD 8.27
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available