F166L (p.Phe166Leu) variant of ITPR2 (Q14571)
F166L (p.Phe166Leu) 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 0.61 / 1. The record also includes population frequency data and structural context.
F166L (p.Phe166Leu) variant details
- p.Phe166Leu
- rs563917550
- ClinGen CA6490118
- ClinVar RCV004257500
- 1000Genomes rs563917550
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.72
- CADD 22.50
- PolyPhen-2 0.06
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available