S196C (p.Ser196Cys) variant of ITPR2 (Q14571)
S196C (p.Ser196Cys) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
S196C (p.Ser196Cys) variant details
- p.Ser196Cys
- ExAC rs761534785
- gnomAD rs761534785
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.97
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available