L16L (p.Leu16Leu) variant of KCNQ5 (Q9NR82)
L16L (p.Leu16Leu) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L16L (p.Leu16Leu) variant details
- p.Leu16Leu
- gnomAD 6-72622237-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 13.10
- Population evidence available
- Structural context available
- Literature evidence available