H194Y (p.His194Tyr) variant of ITPR2 (Q14571)
H194Y (p.His194Tyr) 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 0.88 / 1. The record also includes population frequency data and structural context.
H194Y (p.His194Tyr) variant details
- p.His194Tyr
- rs1948736959
- ClinGen CA384330288
- ClinVar RCV004266084
- Ensembl rs1948736959
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.94
- CADD 27.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available