L71F (p.Leu71Phe) variant of KCNJ3 (P48549)
L71F (p.Leu71Phe) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L71F (p.Leu71Phe) variant details
- p.Leu71Phe
- TOPMed rs1684838924
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.59
- CADD 23.60
- PolyPhen-2 0.23
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available