N184H (p.Asn184His) variant of PICALM (Q13492)
N184H (p.Asn184His) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
N184H (p.Asn184His) variant details
- p.Asn184His
- TOPMed rs1239694127
- gnomAD rs1239694127
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.20
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.37
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available