V62A (p.Val62Ala) variant of PSEN1 (Presenilin-1)
V62A (p.Val62Ala) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V62A (p.Val62Ala) variant details
- p.Val62Ala
- gnomAD 14-73170894-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.65
- CADD 17.90
- PolyPhen-2 0.22
- SIFT 0.96
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available