V32M (p.Val32Met) variant of TGFBR2 (TGF-beta receptor type-2)
V32M (p.Val32Met) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V32M (p.Val32Met) variant details
- p.Val32Met
- rs1698265767
- gnomAD 3-30623201-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- CADD 10.50
- Most common in the East Asian population (allele frequency 0.00031)
- Structural context available
- Literature evidence available