Q47R (p.Gln47Arg) variant of FAS (P25445)
Q47R (p.Gln47Arg) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autoimmune lymphoproliferative syndrome type 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- rs553156945
- ClinGen CA5593035
- ClinVar RCV002994119
- ClinVar RCV003170815
- Conflicting interpretations
- Autoimmune lymphoproliferative syndrome type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0639
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (Autoimmune lymphoproliferative syndrome type 1; Inborn genetic d)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)