V4L (p.Val4Leu) variant of KCNJ10 (P78508)
V4L (p.Val4Leu) in KCNJ10 (P78508) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
V4L (p.Val4Leu) variant details
- p.Val4Leu
- ESP rs144428351
- ExAC rs144428351
- TOPMed rs144428351
- gnomAD rs144428351
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 13.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available