V28I (p.Val28Ile) variant of TGFBR2 (TGF-beta receptor type-2)
V28I (p.Val28Ile) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V28I (p.Val28Ile) variant details
- p.Val28Ile
- TOPMed rs1225583022
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.11
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available