G40A (p.Gly40Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
G40A (p.Gly40Ala) in KRT18 (Keratin, type I cytoskeletal 18) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G40A (p.Gly40Ala) variant details
- p.Gly40Ala
- gnomAD 12-52949291-G-GCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available