G70A (p.Gly70Ala) variant of KRT5 (Keratin, type II cytoskeletal 5)
G70A (p.Gly70Ala) 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 0.39 / 1. The record also includes population frequency data and structural context.
G70A (p.Gly70Ala) variant details
- p.Gly70Ala
- rs1565594174
- NCI-TCGA Cosmic COSV5286
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.32
- CADD 20.50
- PolyPhen-2 0.08
- SIFT 0.06
- UniProt: Variant assessed as somatic; high impact.
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available