D107E (p.Asp107Glu) variant of MYH7 (Myosin-7)
D107E (p.Asp107Glu) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
D107E (p.Asp107Glu) variant details
- p.Asp107Glu
- rs2754166
- UniProt VAR 017745
- Ensembl rs2754166
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.09
- MetaLR 0.17
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.05
- Structural context available
- Cited in: Complete sequence and organization of the human cardiac beta-myosin heavy chain gene. (PMID 2362820)
- Cited in: Characterization of human cardiac myosin heavy chain genes. (PMID 2726733)