D42N (p.Asp42Asn) variant of TTN (Titin)
D42N (p.Asp42Asn) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- cosmic curated COSV10741
- ExAC rs759317260
- gnomAD rs759317260
- Missense
- CADD 24.70
- PolyPhen-2 1.00
- Population evidence available