N50H (p.Asn50His) variant of PICALM (Q13492)
N50H (p.Asn50His) 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.
N50H (p.Asn50His) variant details
- p.Asn50His
- ExAC rs775211588
- gnomAD rs775211588
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.35
- CADD 26.40
- PolyPhen-2 0.46
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available