G5R (p.Gly5Arg) variant of FAN1 (Fanconi-associated nuclease 1)
G5R (p.Gly5Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- rs149291568
- 1000Genomes rs149291568
- ESP rs149291568
- ExAC rs149291568
- Uncertain significance
- Karyomegalic interstitial nephritis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.06
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Karyomegalic interstitial nephritis; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available