L16I (p.Leu16Ile) variant of KCNQ5 (Q9NR82)
L16I (p.Leu16Ile) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L16I (p.Leu16Ile) variant details
- p.Leu16Ile
- gnomAD 6-72622235-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.39
- CADD 23.40
- PolyPhen-2 0.68
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available