L32L (p.Leu32Leu) variant of KCNQ5 (Q9NR82)
L32L (p.Leu32Leu) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L32L (p.Leu32Leu) variant details
- p.Leu32Leu
- gnomAD 6-72622283-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available