R27P (p.Arg27Pro) variant of KRT18 (Keratin, type I cytoskeletal 18)
R27P (p.Arg27Pro) 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.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- gnomAD rs1368538220
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.23
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available