A87T (p.Ala87Thr) variant of ITPR2 (Q14571)
A87T (p.Ala87Thr) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A87T (p.Ala87Thr) variant details
- p.Ala87Thr
- cosmic curated COSV54386
- gnomAD rs1948907356
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.58
- CADD 22.70
- PolyPhen-2 0.32
- SIFT 0.18
- Population evidence available
- Structural context available