D41E (p.Asp41Glu) variant of MYH6 (Myosin-6)
D41E (p.Asp41Glu) in MYH6 (Myosin-6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D41E (p.Asp41Glu) variant details
- p.Asp41Glu
- gnomAD rs1439963430
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.36
- CADD 0.53
- PolyPhen-2 0.12
- SIFT 0.16
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available