E88Q (p.Glu88Gln) variant of MYH6 (Myosin-6)
E88Q (p.Glu88Gln) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E88Q (p.Glu88Gln) variant details
- p.Glu88Gln
- rs442275
- UniProt VAR 030203
- ExAC rs442275
- gnomAD rs442275
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.73
- CADD 25.40
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Characterization of human cardiac myosin heavy chain genes. (PMID 2726733)
- Cited in: Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6). (PMID 8307559)