R14W (p.Arg14Trp) variant of KRT18 (Keratin, type I cytoskeletal 18)
R14W (p.Arg14Trp) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R14W (p.Arg14Trp) variant details
- p.Arg14Trp
- cosmic curated COSV10532
- ExAC rs766809169
- gnomAD rs766809169
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.50
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available