G38D (p.Gly38Asp) variant of KRT18 (Keratin, type I cytoskeletal 18)
G38D (p.Gly38Asp) in KRT18 (Keratin, type I cytoskeletal 18) 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 0.78 / 1. The record also includes population frequency data and structural context.
G38D (p.Gly38Asp) variant details
- p.Gly38Asp
- rs1486318507
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10118
- gnomAD rs1486318507
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.84
- CADD 32.00
- PolyPhen-2 0.59
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available