L16F (p.Leu16Phe) variant of KCNQ5 (Q9NR82)
L16F (p.Leu16Phe) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- Ensembl rs2098915568
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.47
- CADD 25.90
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available