H13R (p.His13Arg) variant of TGFB2 (P61812)
H13R (p.His13Arg) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
H13R (p.His13Arg) variant details
- p.His13Arg
- rs1656693157
- ClinGen CA344725146
- ClinVar RCV003833856
- gnomAD rs1656693157
- Uncertain significance
- Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.09
- CADD 21.20
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)