R11Q (p.Arg11Gln) variant of TGFBR1 (TGF-beta receptor type-1)
R11Q (p.Arg11Gln) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- rs886038980
- ClinGen CA16605929
- ClinVar RCV000418390
- ClinVar RCV003987535
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.15
- CADD 9.90
- PolyPhen-2 0.01
- SIFT 0.70
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.5e-05)
- Structural context available