R34C (p.Arg34Cys) variant of KRT9 (Keratin, type I cytoskeletal 9)
R34C (p.Arg34Cys) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- ESP rs376754002
- ExAC rs376754002
- TOPMed rs376754002
- gnomAD rs376754002
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.28
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available