P69S (p.Pro69Ser) variant of PSEN2 (Presenilin-2)
P69S (p.Pro69Ser) 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 0.41 / 1. The record also includes population frequency data and structural context.
P69S (p.Pro69Ser) variant details
- p.Pro69Ser
- cosmic curated COSV60917
- ESP rs202133351
- ExAC rs202133351
- TOPMed rs202133351
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.43
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available