V14I (p.Val14Ile) variant of KCNJ3 (P48549)
V14I (p.Val14Ile) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
V14I (p.Val14Ile) variant details
- p.Val14Ile
- ESP rs370581540
- ExAC rs370581540
- TOPMed rs370581540
- gnomAD rs370581540
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- CADD 21.10
- PolyPhen-2 0.20
- SIFT 0.43
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available