I121V (p.Ile121Val) variant of ITPR2 (Q14571)
I121V (p.Ile121Val) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I121V (p.Ile121Val) variant details
- p.Ile121Val
- gnomAD rs1376431732
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.35
- CADD 21.50
- PolyPhen-2 0.29
- SIFT 0.40
- Population evidence available
- Structural context available