G43G (p.Gly43Gly) variant of KRT18 (Keratin, type I cytoskeletal 18)
G43G (p.Gly43Gly) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G43G (p.Gly43Gly) variant details
- p.Gly43Gly
- rs2120763166
- gnomAD 12-52949302-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 11.70
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available