M185V (p.Met185Val) variant of ITPR2 (Q14571)
M185V (p.Met185Val) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
M185V (p.Met185Val) variant details
- p.Met185Val
- ExAC rs766383573
- gnomAD rs766383573
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.57
- CADD 19.20
- PolyPhen-2 0.37
- SIFT 1.00
- Population evidence available
- Structural context available