D119N (p.Asp119Asn) variant of PICALM (Q13492)
D119N (p.Asp119Asn) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D119N (p.Asp119Asn) variant details
- p.Asp119Asn
- TOPMed rs2095580867
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.27
- CADD 23.50
- PolyPhen-2 0.41
- SIFT 0.06
- Population evidence available
- Structural context available