L16S (p.Leu16Ser) variant of KCNQ5 (Q9NR82)
L16S (p.Leu16Ser) in KCNQ5 (Q9NR82) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L16S (p.Leu16Ser) variant details
- p.Leu16Ser
- gnomAD 6-72622231-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available