V39M (p.Val39Met) variant of ITPR2 (Q14571)
V39M (p.Val39Met) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- Ensembl rs1950319383
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.83
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available