A40G (p.Ala40Gly) variant of FAN1 (Fanconi-associated nuclease 1)
A40G (p.Ala40Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- rs2061934360
- ClinGen CA391519792
- ClinVar RCV002623031
- ClinVar RCV004750756
- Uncertain significance
- not provided; Karyomegalic interstitial nephritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.26
- CADD 23.50
- PolyPhen-2 0.70
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Karyomegalic interstitial nephritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available