A6T (p.Ala6Thr) variant of PML (Protein PML)
A6T (p.Ala6Thr) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 15-73994828-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0582
- REVEL 0.03
- CADD 5.77
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available