D2010Y (p.Asp2010Tyr) variant of MYO7A (Unconventional myosin-VIIa)
D2010Y (p.Asp2010Tyr) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ear malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
D2010Y (p.Asp2010Tyr) variant details
- p.Asp2010Tyr
- rs755934966
- ClinGen CA381934630
- ClinVar RCV001814338
- ExAC rs755934966
- Likely pathogenic
- Ear malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.84
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Ear malformation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available