Y10C (p.Tyr10Cys) variant of ITPR2 (Q14571)
Y10C (p.Tyr10Cys) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Y10C (p.Tyr10Cys) variant details
- p.Tyr10Cys
- Ensembl rs1951138224
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.64
- CADD 29.40
- PolyPhen-2 0.49
- SIFT 0.00
- Population evidence available
- Structural context available