L9R (p.Leu9Arg) variant of TGFBR2 (TGF-beta receptor type-2)
L9R (p.Leu9Arg) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L9R (p.Leu9Arg) variant details
- p.Leu9Arg
- TOPMed rs920370571
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.49
- CADD 25.30
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available