V48M (p.Val48Met) variant of KRT18 (Keratin, type I cytoskeletal 18)
V48M (p.Val48Met) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V48M (p.Val48Met) variant details
- p.Val48Met
- cosmic curated COSV66315
- 1000Genomes rs1359140246
- gnomAD rs1359140246
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.29
- CADD 9.03
- PolyPhen-2 0.05
- SIFT 0.37
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available