M50T (p.Met50Thr) variant of FAN1 (Fanconi-associated nuclease 1)
M50T (p.Met50Thr) 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 Karyomegalic interstitial nephritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
M50T (p.Met50Thr) variant details
- p.Met50Thr
- 1000Genomes rs148404807
- ESP rs148404807
- ExAC rs148404807
- TOPMed rs148404807
- Uncertain significance
- Karyomegalic interstitial nephritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.71
- CADD 25.70
- PolyPhen-2 0.48
- SIFT 0.00
- ClinVar: Uncertain significance (Karyomegalic interstitial nephritis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available