N135K (p.Asn135Lys) variant of ITPR2 (Q14571)
N135K (p.Asn135Lys) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
N135K (p.Asn135Lys) variant details
- p.Asn135Lys
- TOPMed rs1948854851
- gnomAD rs1948854851
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.78
- CADD 25.90
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available