L14H (p.Leu14His) variant of TGFBR1 (TGF-beta receptor type-1)
L14H (p.Leu14His) in TGFBR1 (TGF-beta receptor type-1) 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 0.41 / 1. The record also includes population frequency data and structural context.
L14H (p.Leu14His) variant details
- p.Leu14His
- gnomAD rs1826371375
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.38
- CADD 21.80
- PolyPhen-2 0.05
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available