K181Q (p.Lys181Gln) variant of ITPR2 (Q14571)
K181Q (p.Lys181Gln) in ITPR2 (Q14571) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
K181Q (p.Lys181Gln) variant details
- p.Lys181Gln
- TOPMed rs1020261536
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.84
- AlphaMissense 0.77
- MetaLR 0.95
- MetaSVM 1.08
- CADD 27.90
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available