L60P (p.Leu60Pro) variant of KCNJ3 (P48549)
L60P (p.Leu60Pro) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L60P (p.Leu60Pro) variant details
- p.Leu60Pro
- gnomAD 2-154698954-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available