N63M (p.Asn63Met) variant of MYL2 (P10916)
N63M (p.Asn63Met) in MYL2 (P10916) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N63M (p.Asn63Met) variant details
- p.Asn63Met
- rs1177936172
- gnomAD 12-110914271-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available