H13R (p.His13Arg) variant of TGFBR2 (TGF-beta receptor type-2)
H13R (p.His13Arg) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
H13R (p.His13Arg) variant details
- p.His13Arg
- rs769700663
- ExAC rs769700663
- gnomAD rs769700663
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available