T23A (p.Thr23Ala) variant of TGFB2 (P61812)
T23A (p.Thr23Ala) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
T23A (p.Thr23Ala) variant details
- p.Thr23Ala
- gnomAD rs1656695458
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.47
- CADD 25.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available