G205W (p.Gly205Trp) variant of ITPR2 (Q14571)
G205W (p.Gly205Trp) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G205W (p.Gly205Trp) variant details
- p.Gly205Trp
- Ensembl rs1853570491
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.94
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available