S27F (p.Ser27Phe) variant of FAN1 (Fanconi-associated nuclease 1)
S27F (p.Ser27Phe) 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 0.31 / 1. The record also includes population frequency data and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- rs139353520
- ClinGen CA7449975
- ClinVar RCV001864031
- ClinVar RCV003956417
- Uncertain significance
- not provided; Karyomegalic interstitial nephritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.22
- CADD 17.40
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Karyomegalic interstitial nephritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available