R11W (p.Arg11Trp) variant of TGFBR1 (TGF-beta receptor type-1)
R11W (p.Arg11Trp) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R11W (p.Arg11Trp) variant details
- p.Arg11Trp
- gnomAD 9-99105236-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.34
- CADD 16.40
- PolyPhen-2 0.14
- SIFT 0.19
- Most common in the East Asian population (allele frequency 8.7e-05)
- Structural context available
- Literature evidence available