S228A (p.Ser228Ala) variant of ITPR2 (Q14571)
S228A (p.Ser228Ala) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S228A (p.Ser228Ala) variant details
- p.Ser228Ala
- ExAC rs748567988
- TOPMed rs748567988
- gnomAD rs748567988
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.32
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available