S227N (p.Ser227Asn) variant of ITPR2 (Q14571)
S227N (p.Ser227Asn) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S227N (p.Ser227Asn) variant details
- p.Ser227Asn
- ExAC rs772702197
- TOPMed rs772702197
- gnomAD rs772702197
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.62
- CADD 23.40
- PolyPhen-2 0.80
- SIFT 0.29
- Population evidence available
- Structural context available