V68L (p.Val68Leu) variant of PSEN2 (Presenilin-2)
V68L (p.Val68Leu) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V68L (p.Val68Leu) variant details
- p.Val68Leu
- gnomAD 1-226883765-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.43
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available