G38C (p.Gly38Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
G38C (p.Gly38Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G38C (p.Gly38Cys) variant details
- p.Gly38Cys
- cosmic curated COSV10748
- 1000Genomes rs77999286
- gnomAD rs77999286
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.73
- CADD 33.00
- PolyPhen-2 0.84
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available