K90R (p.Lys90Arg) variant of ITPR2 (Q14571)
K90R (p.Lys90Arg) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K90R (p.Lys90Arg) variant details
- p.Lys90Arg
- ExAC rs772754580
- gnomAD rs772754580
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.63
- CADD 24.50
- PolyPhen-2 0.58
- SIFT 0.11
- Population evidence available
- Structural context available