R27W (p.Arg27Trp) variant of KRT18 (Keratin, type I cytoskeletal 18)
R27W (p.Arg27Trp) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R27W (p.Arg27Trp) variant details
- p.Arg27Trp
- cosmic curated COSV66315
- gnomAD rs77825282
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.35
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available