K130R (p.Lys130Arg) variant of ITPR2 (Q14571)
K130R (p.Lys130Arg) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
K130R (p.Lys130Arg) variant details
- p.Lys130Arg
- TOPMed rs1948855331
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.90
- CADD 24.20
- PolyPhen-2 0.26
- SIFT 0.02
- Population evidence available
- Structural context available