D41Y (p.Asp41Tyr) variant of MYO7A (Unconventional myosin-VIIa)
D41Y (p.Asp41Tyr) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D41Y (p.Asp41Tyr) variant details
- p.Asp41Tyr
- rs782032952
- ClinGen CA381926581
- ClinVar RCV002650452
- ExAC rs782032952
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.79
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available