D13G (p.Asp13Gly) variant of ITPR2 (Q14571)
D13G (p.Asp13Gly) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
D13G (p.Asp13Gly) variant details
- p.Asp13Gly
- cosmic curated COSV54383
- ExAC rs752590283
- gnomAD rs752590283
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.81
- SIFT 0.00
- Population evidence available
- Structural context available