D55H (p.Asp55His) variant of FAS (P25445)
D55H (p.Asp55His) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D55H (p.Asp55His) variant details
- p.Asp55His
- rs148677058
- ClinGen CA5593041
- ClinVar RCV001939059
- ClinVar RCV003303433
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 6.08
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)