N36S (p.Asn36Ser) variant of FAN1 (Fanconi-associated nuclease 1)
N36S (p.Asn36Ser) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
N36S (p.Asn36Ser) variant details
- p.Asn36Ser
- rs146249441
- 1000Genomes rs146249441
- ESP rs146249441
- ExAC rs146249441
- Uncertain significance
- Karyomegalic interstitial nephritis; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.25
- CADD 14.50
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Uncertain significance (Karyomegalic interstitial nephritis; not provided; Inborn geneti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)