K108E (p.Lys108Glu) variant of ITPR2 (Q14571)
K108E (p.Lys108Glu) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K108E (p.Lys108Glu) variant details
- p.Lys108Glu
- ExAC rs773831925
- gnomAD rs773831925
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.36
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.06
- Population evidence available
- Structural context available