V64V (p.Val64Val) variant of PSEN2 (Presenilin-2)
V64V (p.Val64Val) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V64V (p.Val64Val) variant details
- p.Val64Val
- rs201272715
- gnomAD 1-226883755-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 2.35
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available