R60Q (p.Arg60Gln) variant of PSEN1 (Presenilin-1)
R60Q (p.Arg60Gln) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R60Q (p.Arg60Gln) variant details
- p.Arg60Gln
- TOPMed rs1315157428
- gnomAD rs1315157428
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.36
- CADD 2.20
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available