A6D (p.Ala6Asp) variant of PML (Protein PML)
A6D (p.Ala6Asp) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- gnomAD 15-73994829-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.10
- CADD 16.90
- PolyPhen-2 0.22
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available