R31S (p.Arg31Ser) variant of KCNQ5 (Q9NR82)
R31S (p.Arg31Ser) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R31S (p.Arg31Ser) variant details
- p.Arg31Ser
- gnomAD 6-72622280-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.45
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available