N24D (p.Asn24Asp) variant of PSEN1 (Presenilin-1)
N24D (p.Asn24Asp) in PSEN1 (Presenilin-1) 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.
N24D (p.Asn24Asp) variant details
- p.Asn24Asp
- TOPMed rs1203994295
- gnomAD rs1203994295
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.42
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available