P29S (p.Pro29Ser) variant of PML (Protein PML)
P29S (p.Pro29Ser) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- ExAC rs749399804
- gnomAD rs749399804
- Missense
- Variant Prioritization Score for Impact Estimate 0.0904
- REVEL 0.02
- CADD 7.70
- PolyPhen-2 0.01
- SIFT 0.58
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available