T101A (p.Thr101Ala) variant of TTN (Titin)
T101A (p.Thr101Ala) 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.
T101A (p.Thr101Ala) variant details
- p.Thr101Ala
- rs138945705
- ClinGen CA2006343
- cosmic curated COSV10059
- ClinVar RCV003137268
- Uncertain significance
- Missense
- CADD 22.30
- PolyPhen-2 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available