N64S (p.Asn64Ser) variant of ITPR2 (Q14571)
N64S (p.Asn64Ser) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
N64S (p.Asn64Ser) variant details
- p.Asn64Ser
- ExAC rs752814982
- TOPMed rs752814982
- gnomAD rs752814982
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.55
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.09
- Population evidence available
- Structural context available