P28R (p.Pro28Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
P28R (p.Pro28Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- ExAC rs74379840
- TOPMed rs74379840
- gnomAD rs74379840
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.19
- CADD 21.30
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available