A63T (p.Ala63Thr) variant of TBX20 (T-box transcription factor TBX20)
A63T (p.Ala63Thr) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A63T (p.Ala63Thr) variant details
- p.Ala63Thr
- rs201839825
- ClinGen CA4217560
- ClinVar RCV002125052
- ClinVar RCV002409521
- Benign/Likely benign
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.24
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available