V63V (p.Val63Val) variant of PSEN1 (Presenilin-1)
V63V (p.Val63Val) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V63V (p.Val63Val) variant details
- p.Val63Val
- rs1409411737
- gnomAD 14-73170898-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 12.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available