R62S (p.Arg62Ser) variant of PSEN2 (Presenilin-2)
R62S (p.Arg62Ser) in PSEN2 (Presenilin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in AD4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R62S (p.Arg62Ser) variant details
- p.Arg62Ser
- cosmic curated COSV60916
- ESP rs150400387
- ExAC rs150400387
- TOPMed rs150400387
- Uncertain significance
- in AD4
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.45
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Variant of uncertain significance (in AD4)
- UniProt: Uncertain significance (in AD4)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available