S7R (p.Ser7Arg) variant of ITPR2 (Q14571)
S7R (p.Ser7Arg) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- ExAC rs751052733
- gnomAD rs751052733
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.67
- CADD 25.40
- PolyPhen-2 0.64
- SIFT 0.00
- Population evidence available
- Structural context available