V29V (p.Val29Val) variant of KRT18 (Keratin, type I cytoskeletal 18)
V29V (p.Val29Val) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V29V (p.Val29Val) variant details
- p.Val29Val
- rs1942418645
- gnomAD 12-52949260-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 15.30
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available