E25K (p.Glu25Lys) variant of MYH6 (Myosin-6)
E25K (p.Glu25Lys) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- ExAC rs778757636
- gnomAD rs778757636
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.60
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available