V32I (p.Val32Ile) variant of TGFBR2 (TGF-beta receptor type-2)
V32I (p.Val32Ile) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V32I (p.Val32Ile) variant details
- p.Val32Ile
- gnomAD 3-30606977-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.17
- CADD 32.00
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available