L9P (p.Leu9Pro) variant of TGFBR2 (TGF-beta receptor type-2)
L9P (p.Leu9Pro) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- TOPMed rs920370571
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.44
- CADD 29.10
- PolyPhen-2 0.25
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available