R6G (p.Arg6Gly) variant of KRT18 (Keratin, type I cytoskeletal 18)
R6G (p.Arg6Gly) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- gnomAD 12-52949189-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.25
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available