S105P (p.Ser105Pro) variant of ITPR2 (Q14571)
S105P (p.Ser105Pro) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S105P (p.Ser105Pro) variant details
- p.Ser105Pro
- ExAC rs773624105
- gnomAD rs773624105
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.59
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.07
- Population evidence available
- Structural context available