D73Y (p.Asp73Tyr) variant of VCL (Vinculin)
D73Y (p.Asp73Tyr) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D73Y (p.Asp73Tyr) variant details
- p.Asp73Tyr
- gnomAD 10-74043131-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.61
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available