H13H (p.His13His) variant of TGFBR2 (TGF-beta receptor type-2)
H13H (p.His13His) in TGFBR2 (TGF-beta receptor type-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H13H (p.His13His) variant details
- p.His13His
- gnomAD 3-30606922-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available