V68G (p.Val68Gly) variant of PSEN2 (Presenilin-2)
V68G (p.Val68Gly) in PSEN2 (Presenilin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V68G (p.Val68Gly) variant details
- p.Val68Gly
- ExAC rs765144719
- TOPMed rs765144719
- gnomAD rs765144719
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.32
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available