Q29R (p.Gln29Arg) variant of TGFBR2 (TGF-beta receptor type-2)
Q29R (p.Gln29Arg) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q29R (p.Gln29Arg) variant details
- p.Gln29Arg
- gnomAD 3-30606969-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.21
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.87
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available