L50V (p.Leu50Val) variant of TGFB2 (P61812)
L50V (p.Leu50Val) in TGFB2 (P61812) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- gnomAD 1-218346849-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.60
- CADD 25.40
- PolyPhen-2 0.78
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available