p.Ala26dup variant of TGFBR1 (TGF-beta receptor type-1)
p.Ala26dup in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala26dup variant details
- rs11466445
- gnomAD 9-99105255-T-TGGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 19.70
- Most common in the 1KG:ITU population (allele frequency 0.01)
- Structural context available
- Cited in: Inherited alterations of TGF beta signaling components in Appalachian cervical cancers. (PMID 31435875)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)