A4T (p.Ala4Thr) variant of PML (Protein PML)
A4T (p.Ala4Thr) 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 and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- gnomAD rs1450586395
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.08
- CADD 20.40
- PolyPhen-2 0.26
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available