A87V (p.Ala87Val) variant of ITPR2 (Q14571)
A87V (p.Ala87Val) in ITPR2 (Q14571) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A87V (p.Ala87Val) variant details
- p.Ala87Val
- TOPMed rs1482240966
- gnomAD rs1482240966
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.41
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available