M1V (p.Met1Val) variant of FAN1 (Fanconi-associated nuclease 1)
M1V (p.Met1Val) in FAN1 (Fanconi-associated nuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Karyomegalic interstitial nephritis. The record also includes population frequency data and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs139312614
- ClinGen CA7449949
- ClinVar RCV001899896
- ClinVar RCV002490003
- Uncertain significance
- not provided; Karyomegalic interstitial nephritis
- Missense
- ClinVar: Uncertain significance (not provided; Karyomegalic interstitial nephritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available