S49N (p.Ser49Asn) variant of PSEN2 (Presenilin-2)
S49N (p.Ser49Asn) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- TOPMed rs1051303953
- gnomAD rs1051303953
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.31
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available