P25L (p.Pro25Leu) variant of TGFBR2 (TGF-beta receptor type-2)
P25L (p.Pro25Leu) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- gnomAD 3-30606957-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.41
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available