S16C (p.Ser16Cys) variant of ITPR2 (Q14571)
S16C (p.Ser16Cys) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S16C (p.Ser16Cys) variant details
- p.Ser16Cys
- gnomAD rs1476004438
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.87
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available