N184D (p.Asn184Asp) variant of PICALM (Q13492)
N184D (p.Asn184Asp) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N184D (p.Asn184Asp) variant details
- p.Asn184Asp
- TOPMed rs1239694127
- gnomAD rs1239694127
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.17
- CADD 26.50
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available