E72E (p.Glu72Glu) variant of MYL2 (P10916)
E72E (p.Glu72Glu) in MYL2 (P10916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E72E (p.Glu72Glu) variant details
- p.Glu72Glu
- rs376506450
- gnomAD 12-110914244-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 6.43
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available