T7M (p.Thr7Met) variant of TTN (Titin)
T7M (p.Thr7Met) 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.
T7M (p.Thr7Met) variant details
- p.Thr7Met
- rs761344572
- ClinGen CA2006452
- NCI-TCGA Cosmic COSV6004
- cosmic curated COSV60049
- Uncertain significance
- Missense
- CADD 23.30
- PolyPhen-2 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available