G17G (p.Gly17Gly) variant of KRT18 (Keratin, type I cytoskeletal 18)
G17G (p.Gly17Gly) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G17G (p.Gly17Gly) variant details
- p.Gly17Gly
- gnomAD 12-52949224-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 14.20
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available