D8G (p.Asp8Gly) variant of MYO7A (Unconventional myosin-VIIa)
D8G (p.Asp8Gly) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
D8G (p.Asp8Gly) variant details
- p.Asp8Gly
- NCI-TCGA TCGA novel
- TOPMed rs1951299011
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.89
- CADD 27.50
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available