A6S (p.Ala6Ser) variant of PML (Protein PML)
A6S (p.Ala6Ser) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 15-73994828-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0429
- REVEL 0.01
- CADD 3.53
- PolyPhen-2 0.01
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available