D15N (p.Asp15Asn) variant of PSEN2 (Presenilin-2)
D15N (p.Asp15Asn) in PSEN2 (Presenilin-2) 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, published literature, and structural context.
D15N (p.Asp15Asn) variant details
- p.Asp15Asn
- gnomAD 1-226881950-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.40
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available