I14V (p.Ile14Val) variant of TGFBR2 (TGF-beta receptor type-2)
I14V (p.Ile14Val) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I14V (p.Ile14Val) variant details
- p.Ile14Val
- gnomAD 3-30606923-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.26
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available