A6V (p.Ala6Val) variant of PML (Protein PML)
A6V (p.Ala6Val) 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.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD 15-73994829-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.11
- CADD 13.10
- PolyPhen-2 0.12
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available