A4S (p.Ala4Ser) variant of PML (Protein PML)
A4S (p.Ala4Ser) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 15-73994822-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.10
- CADD 18.40
- PolyPhen-2 0.20
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available