A5T (p.Ala5Thr) variant of TTN (Titin)
A5T (p.Ala5Thr) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- rs552620474
- ClinGen CA2006457
- ClinVar RCV000604870
- ClinVar RCV001485555
- Likely benign
- Missense
- CADD 25.70
- PolyPhen-2 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)