P8L (p.Pro8Leu) variant of TGFBR1 (TGF-beta receptor type-1)
P8L (p.Pro8Leu) in TGFBR1 (TGF-beta receptor type-1) 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 0.25 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- rs863223803
- ClinGen CA323707
- ClinVar RCV000199173
- 1000Genomes rs863223803
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.20
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available