V18L (p.Val18Leu) variant of KCNQ5 (Q9NR82)
V18L (p.Val18Leu) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- gnomAD 6-72622241-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.30
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available