R62C (p.Arg62Cys) variant of TTN (Titin)
R62C (p.Arg62Cys) 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.
R62C (p.Arg62Cys) variant details
- p.Arg62Cys
- rs766108359
- ClinGen CA2006398
- cosmic curated COSV59957
- ClinVar RCV000400504
- Uncertain significance
- Missense
- CADD 27.90
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available