G17D (p.Gly17Asp) variant of KRT18 (Keratin, type I cytoskeletal 18)
G17D (p.Gly17Asp) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- cosmic curated COSV66315
- ExAC rs79476176
- gnomAD rs79476176
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.60
- CADD 27.20
- PolyPhen-2 0.80
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available