G40G (p.Gly40Gly) variant of KRT18 (Keratin, type I cytoskeletal 18)
G40G (p.Gly40Gly) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G40G (p.Gly40Gly) variant details
- p.Gly40Gly
- gnomAD 12-52949293-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 12.30
- Population evidence available
- Structural context available
- Literature evidence available