R31C (p.Arg31Cys) variant of KCNQ5 (Q9NR82)
R31C (p.Arg31Cys) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R31C (p.Arg31Cys) variant details
- p.Arg31Cys
- 1000Genomes rs2154471215
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.58
- CADD 25.40
- PolyPhen-2 0.27
- SIFT 0.01
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available