R31A (p.Arg31Ala) variant of KCNQ5 (Q9NR82)
R31A (p.Arg31Ala) in KCNQ5 (Q9NR82) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R31A (p.Arg31Ala) variant details
- p.Arg31Ala
- rs1187050062
- gnomAD 6-72622273-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 25.30
- Most common in the African/African-American population (allele frequency 8.5e-05)
- Structural context available
- Literature evidence available