N24T (p.Asn24Thr) variant of PSEN1 (Presenilin-1)
N24T (p.Asn24Thr) in PSEN1 (Presenilin-1) 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.
N24T (p.Asn24Thr) variant details
- p.Asn24Thr
- ExAC rs200598249
- TOPMed rs200598249
- gnomAD rs200598249
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.47
- CADD 9.67
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available