S22L (p.Ser22Leu) variant of PSEN2 (Presenilin-2)
S22L (p.Ser22Leu) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- cosmic curated COSV10590
- 1000Genomes rs552406611
- ExAC rs552406611
- TOPMed rs552406611
- Uncertain significance
- Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.42
- CADD 19.00
- PolyPhen-2 0.15
- SIFT 0.06
- ClinVar: Uncertain significance (Alzheimer disease 4)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available