V13G (p.Val13Gly) variant of PSEN2 (Presenilin-2)
V13G (p.Val13Gly) 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 0.38 / 1. The record also includes population frequency data and structural context.
V13G (p.Val13Gly) variant details
- p.Val13Gly
- ExAC rs766853710
- gnomAD rs766853710
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.46
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available