S118G (p.Ser118Gly) variant of ITPR2 (Q14571)
S118G (p.Ser118Gly) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S118G (p.Ser118Gly) variant details
- p.Ser118Gly
- ExAC rs768282329
- TOPMed rs768282329
- gnomAD rs768282329
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.41
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 1.00
- Population evidence available
- Structural context available