R23C (p.Arg23Cys) variant of KRT8 (Keratin, type II cytoskeletal 8)
R23C (p.Arg23Cys) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
R23C (p.Arg23Cys) variant details
- p.Arg23Cys
- cosmic curated COSV53175
- ExAC rs201807576
- gnomAD rs201807576
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the East Asian population (allele frequency 0.00015)