V13V (p.Val13Val) variant of PSEN2 (Presenilin-2)
V13V (p.Val13Val) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V13V (p.Val13Val) variant details
- p.Val13Val
- gnomAD 1-226881946-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 8.70
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available