K101R (p.Lys101Arg) variant of ITPR2 (Q14571)
K101R (p.Lys101Arg) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K101R (p.Lys101Arg) variant details
- p.Lys101Arg
- 1000Genomes rs150639698
- ESP rs150639698
- ExAC rs150639698
- TOPMed rs150639698
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.70
- CADD 26.40
- PolyPhen-2 0.81
- SIFT 0.04
- Population evidence available
- Structural context available