M63V (p.Met63Val) variant of ITPR2 (Q14571)
M63V (p.Met63Val) in ITPR2 (Q14571) is a missense change. Clinical records from ClinVar, EBI, 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 0.72 / 1. The record also includes population frequency data and structural context.
M63V (p.Met63Val) variant details
- p.Met63Val
- rs749938688
- ClinGen CA234840097
- ClinVar RCV004259151
- TOPMed rs749938688
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.81
- CADD 22.60
- PolyPhen-2 0.43
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available