A16T (p.Ala16Thr) variant of FAS (P25445)
A16T (p.Ala16Thr) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Autoimmune lymphoproliferative syndrome type 1; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- rs3218619
- ClinGen CA159628
- cosmic curated COSV58238
- ClinVar RCV000121045
- Benign/Likely benign
- Autoimmune lymphoproliferative syndrome type 1; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 10.30
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Benign/Likely benign (Autoimmune lymphoproliferative syndrome type 1; not specified; n)
- EBI: Benign (in dbSNP:rs3218619)
- UniProt: Benign (in dbSNP:rs3218619)
- Most common in the HGDP:BIAKA population (allele frequency 0.48)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)