V48L (p.Val48Leu) variant of KRT18 (Keratin, type I cytoskeletal 18)
V48L (p.Val48Leu) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V48L (p.Val48Leu) variant details
- p.Val48Leu
- 1000Genomes rs1359140246
- gnomAD rs1359140246
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.45
- CADD 10.30
- PolyPhen-2 0.11
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available