R41G (p.Arg41Gly) variant of PSEN1 (Presenilin-1)
R41G (p.Arg41Gly) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R41G (p.Arg41Gly) variant details
- p.Arg41Gly
- TOPMed rs1258736994
- gnomAD rs1258736994
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.53
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available