I67N (p.Ile67Asn) variant of TTN (Titin)
I67N (p.Ile67Asn) 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.
I67N (p.Ile67Asn) variant details
- p.Ile67Asn
- rs952685437
- NCI-TCGA Cosmic COSV6036
- cosmic curated COSV60368
- TOPMed rs952685437
- Uncertain significance
- Missense
- CADD 25.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available