L35M (p.Leu35Met) variant of FAS (P25445)
L35M (p.Leu35Met) 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.
L35M (p.Leu35Met) variant details
- p.Leu35Met
- rs9333296
- ClinGen CA5593032
- ClinVar RCV003090800
- 1000Genomes rs9333296
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0759
- CADD 2.34
- PolyPhen-2 0.72
- SIFT 0.02
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)