M1R (p.Met1Arg) variant of PSEN2 (Presenilin-2)
M1R (p.Met1Arg) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PSEN2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs762674312
- ClinGen CA345329147
- ClinVar RCV003391446
- Uncertain significance
- PSEN2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.20
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.52
- ClinVar: Uncertain significance (PSEN2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available