C24W (p.Cys24Trp) variant of TGFB2 (P61812)
C24W (p.Cys24Trp) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar 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 0.69 / 1. The record also includes population frequency data and structural context.
C24W (p.Cys24Trp) variant details
- p.Cys24Trp
- gnomAD rs1656695666
- Uncertain significance
- Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.67
- CADD 29.90
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available