S77I (p.Ser77Ile) variant of KRT5 (Keratin, type II cytoskeletal 5)
S77I (p.Ser77Ile) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.28 / 1. The record also includes population frequency data and structural context.
S77I (p.Ser77Ile) variant details
- p.Ser77Ile
- NCI-TCGA Cosmic COSV9935
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.11
- CADD 22.70
- PolyPhen-2 0.12
- SIFT 0.01
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available