A152G (p.Ala152Gly) variant of PICALM (Q13492)
A152G (p.Ala152Gly) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A152G (p.Ala152Gly) variant details
- p.Ala152Gly
- ESP rs377463080
- ExAC rs377463080
- gnomAD rs377463080
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.07
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available