V23I (p.Val23Ile) variant of FAS (P25445)
V23I (p.Val23Ile) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- rs779039838
- ClinGen CA211325363
- ClinVar RCV003518431
- ClinVar RCV004369165
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 4.79
- PolyPhen-2 0.03
- SIFT 0.24
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00029)
- 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)