R14Q (p.Arg14Gln) variant of KRT18 (Keratin, type I cytoskeletal 18)
R14Q (p.Arg14Gln) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- ExAC rs777157164
- gnomAD rs777157164
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.26
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available