T22A (p.Thr22Ala) variant of TTN (Titin)
T22A (p.Thr22Ala) in TTN (Titin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
T22A (p.Thr22Ala) variant details
- p.Thr22Ala
- rs1305775594
- NCI-TCGA Cosmic COSV6023
- cosmic curated COSV60234
- gnomAD rs1305775594
- Variant assessed as somatic; moderate impact.
- Missense
- CADD 16.40
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available