G13D (p.Gly13Asp) variant of KRT5 (Keratin, type II cytoskeletal 5)
G13D (p.Gly13Asp) 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 0.42 / 1. The record also includes population frequency data and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- rs1367644026
- NCI-TCGA Cosmic COSV9935
- TOPMed rs1367644026
- gnomAD rs1367644026
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.33
- CADD 23.80
- PolyPhen-2 0.72
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available