R58G (p.Arg58Gly) variant of FAN1 (Fanconi-associated nuclease 1)
R58G (p.Arg58Gly) in FAN1 (Fanconi-associated nuclease 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R58G (p.Arg58Gly) variant details
- p.Arg58Gly
- ExAC rs754760573
- gnomAD rs754760573
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.27
- CADD 19.00
- PolyPhen-2 0.07
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available