A22S (p.Ala22Ser) variant of MFN2 (Mitofusin-2)
A22S (p.Ala22Ser) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- rs1178355950
- ClinGen CA338459439
- ClinVar RCV001302033
- gnomAD rs1178355950
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.10
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 0.91
- SIFT 0.08
- EVE 0.17
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)