H53R (p.His53Arg) variant of FAS (P25445)
H53R (p.His53Arg) in FAS (P25445) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
H53R (p.His53Arg) variant details
- p.His53Arg
- ExAC rs774178288
- TOPMed rs774178288
- gnomAD rs774178288
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 12.80
- PolyPhen-2 0.39
- SIFT 0.03
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available