V18A (p.Val18Ala) variant of KCNQ5 (Q9NR82)
V18A (p.Val18Ala) in KCNQ5 (Q9NR82) is a missense 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.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- gnomAD 6-72622242-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.40
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available