V62V (p.Val62Val) variant of PSEN1 (Presenilin-1)
V62V (p.Val62Val) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V62V (p.Val62Val) variant details
- p.Val62Val
- rs1897869817
- gnomAD 14-73170895-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 10.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available