S9G (p.Ser9Gly) variant of PSEN2 (Presenilin-2)
S9G (p.Ser9Gly) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S9G (p.Ser9Gly) variant details
- p.Ser9Gly
- rs786205285
- ClinGen CA237497
- ClinVar RCV000172096
- Ensembl rs786205285
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.56
- CADD 24.40
- PolyPhen-2 0.71
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available