L32F (p.Leu32Phe) variant of KCNQ5 (Q9NR82)
L32F (p.Leu32Phe) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L32F (p.Leu32Phe) variant details
- p.Leu32Phe
- gnomAD 6-72622285-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.45
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available