V27M (p.Val27Met) variant of FAS (P25445)
V27M (p.Val27Met) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V27M (p.Val27Met) variant details
- p.Val27Met
- rs201624874
- ClinGen CA211325380
- ClinVar RCV002027737
- 1000Genomes rs201624874
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 8.50
- PolyPhen-2 0.29
- SIFT 0.13
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)