S7N (p.Ser7Asn) variant of ITPR2 (Q14571)
S7N (p.Ser7Asn) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- ExAC rs756770478
- TOPMed rs756770478
- gnomAD rs756770478
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.45
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available