A3V (p.Ala3Val) variant of TGFBR1 (TGF-beta receptor type-1)
A3V (p.Ala3Val) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Marfan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs1564120661
- ClinGen CA374223476
- ClinVar RCV000761570
- Ensembl rs1564120661
- Likely benign
- Marfan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.17
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Likely benign (Marfan syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)
- Cited in: Guidelines for the diagnosis and management of Marfan syndrome. (PMID 17188935)