R35S (p.Arg35Ser) variant of PSEN2 (Presenilin-2)
R35S (p.Arg35Ser) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PSEN2-related disorder. 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.
R35S (p.Arg35Ser) variant details
- p.Arg35Ser
- rs1379056144
- ClinGen CA345329364
- ClinVar RCV003404296
- gnomAD rs1379056144
- Uncertain significance
- PSEN2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.39
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Uncertain significance (PSEN2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available