N55S (p.Asn55Ser) variant of PICALM (Q13492)
N55S (p.Asn55Ser) 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.
N55S (p.Asn55Ser) variant details
- p.Asn55Ser
- ESP rs141093733
- ExAC rs141093733
- TOPMed rs141093733
- gnomAD rs141093733
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.23
- CADD 19.60
- PolyPhen-2 0.03
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available