P11L (p.Pro11Leu) variant of TTN (Titin)
P11L (p.Pro11Leu) 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.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- rs768624416
- ClinGen CA2006448
- cosmic curated COSV59997
- ClinVar RCV000642972
- Uncertain significance
- Missense
- CADD 24.00
- PolyPhen-2 0.33
- 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)