V48V (p.Val48Val) variant of KRT18 (Keratin, type I cytoskeletal 18)
V48V (p.Val48Val) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V48V (p.Val48Val) variant details
- p.Val48Val
- rs1454746282
- gnomAD 12-52949317-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 9.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available