P11S (p.Pro11Ser) variant of TTN (Titin)
P11S (p.Pro11Ser) 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 population frequency data.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs775206165
- ClinGen CA2006449
- ClinVar RCV003886674
- ExAC rs775206165
- Uncertain significance
- Missense
- CADD 26.00
- PolyPhen-2 0.96
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available