S79I (p.Ser79Ile) variant of KRT5 (Keratin, type II cytoskeletal 5)
S79I (p.Ser79Ile) 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 0.26 / 1. The record also includes population frequency data and structural context.
S79I (p.Ser79Ile) variant details
- p.Ser79Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.12
- CADD 16.10
- PolyPhen-2 0.07
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs1065115)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available