I14L (p.Ile14Leu) variant of TGFBR2 (TGF-beta receptor type-2)
I14L (p.Ile14Leu) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I14L (p.Ile14Leu) variant details
- p.Ile14Leu
- gnomAD 3-30606923-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.24
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available