V62L (p.Val62Leu) variant of PSEN1 (Presenilin-1)
V62L (p.Val62Leu) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
V62L (p.Val62Leu) variant details
- p.Val62Leu
- 1000Genomes rs116314689
- ExAC rs116314689
- gnomAD rs116314689
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.53
- CADD 21.40
- PolyPhen-2 0.35
- SIFT 0.68
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available