N90S (p.Asn90Ser) variant of PICALM (Q13492)
N90S (p.Asn90Ser) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
N90S (p.Asn90Ser) variant details
- p.Asn90Ser
- gnomAD rs1474509894
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.32
- CADD 25.90
- PolyPhen-2 0.73
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available