V62M (p.Val62Met) variant of PSEN1 (Presenilin-1)
V62M (p.Val62Met) 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.
V62M (p.Val62Met) variant details
- p.Val62Met
- 1000Genomes rs116314689
- ExAC rs116314689
- gnomAD rs116314689
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.51
- CADD 24.10
- PolyPhen-2 0.85
- SIFT 0.23
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available