E65del (p.Glu65del) variant of MYL2 (P10916)
E65del (p.Glu65del) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E65del (p.Glu65del) variant details
- rs1454705834
- gnomAD 12-110914264-TTTC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 20.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available