K51E (p.Lys51Glu) variant of ITPR2 (Q14571)
K51E (p.Lys51Glu) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
K51E (p.Lys51Glu) variant details
- p.Lys51Glu
- gnomAD rs1365162363
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.76
- CADD 28.80
- PolyPhen-2 0.93
- SIFT 0.02
- Population evidence available
- Structural context available