L32M (p.Leu32Met) variant of KCNQ5 (Q9NR82)
L32M (p.Leu32Met) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L32M (p.Leu32Met) variant details
- p.Leu32Met
- gnomAD 6-72622283-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.35
- CADD 15.00
- PolyPhen-2 0.03
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available