L17F (p.Leu17Phe) variant of FAN1 (Fanconi-associated nuclease 1)
L17F (p.Leu17Phe) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- rs759933516
- ClinGen CA7449968
- cosmic curated COSV10591
- ClinVar RCV003364809
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.40
- CADD 22.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- 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)