F40L (p.Phe40Leu) variant of TTN (Titin)
F40L (p.Phe40Leu) 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.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- rs1554045595
- ClinGen CA349531511
- ClinVar RCV000553830
- Ensembl rs1554045595
- Uncertain significance
- Missense
- AlphaMissense 0.88
- MetaLR 0.07
- MetaSVM -0.94
- PolyPhen-2 0.93
- SIFT 0.29
- MutPred 0.73
- 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)