A93G (p.Ala93Gly) variant of TTN (Titin)
A93G (p.Ala93Gly) 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 and published literature.
A93G (p.Ala93Gly) variant details
- p.Ala93Gly
- rs1473207810
- ClinGen CA349530217
- ClinVar RCV000531038
- ClinVar RCV000593365
- Uncertain significance
- Missense
- AlphaMissense 0.34
- MetaLR 0.51
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)