S22R (p.Ser22Arg) variant of TGFBR2 (TGF-beta receptor type-2)
S22R (p.Ser22Arg) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S22R (p.Ser22Arg) variant details
- p.Ser22Arg
- gnomAD 3-30606949-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.39
- CADD 24.10
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available