R77Q (p.Arg77Gln) variant of TTN (Titin)
R77Q (p.Arg77Gln) 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.
R77Q (p.Arg77Gln) variant details
- p.Arg77Gln
- rs727503709
- ClinGen CA179450
- NCI-TCGA Cosmic COSV5986
- cosmic curated COSV59864
- Uncertain significance
- Missense
- CADD 23.20
- PolyPhen-2 0.37
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available