H54R (p.His54Arg) variant of FAS (P25445)
H54R (p.His54Arg) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoimmune lymphoproliferative syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
H54R (p.His54Arg) variant details
- p.His54Arg
- rs759152311
- ClinGen CA5593040
- ClinVar RCV001063405
- ExAC rs759152311
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0784
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)