V18M (p.Val18Met) variant of KCNQ5 (Q9NR82)
V18M (p.Val18Met) 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.
V18M (p.Val18Met) variant details
- p.Val18Met
- gnomAD 6-72622241-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.31
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available