L10R (p.Leu10Arg) variant of TGFB2 (P61812)
L10R (p.Leu10Arg) in TGFB2 (P61812) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L10R (p.Leu10Arg) variant details
- p.Leu10Arg
- gnomAD 1-218346730-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.66
- CADD 30.00
- PolyPhen-2 0.98
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available