S217R (p.Ser217Arg) variant of ITPR2 (Q14571)
S217R (p.Ser217Arg) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S217R (p.Ser217Arg) variant details
- p.Ser217Arg
- ExAC rs747029100
- gnomAD rs747029100
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.70
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available