A69T (p.Ala69Thr) variant of TTN (Titin)
A69T (p.Ala69Thr) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- rs1370693255
- ClinGen CA349530855
- NCI-TCGA Cosmic COSV5988
- NCI-TCGA Cosmic COSV5999
- Uncertain significance
- Missense
- CADD 22.50
- PolyPhen-2 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)