P3L (p.Pro3Leu) variant of PML (Protein PML)
P3L (p.Pro3Leu) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- gnomAD 15-73994820-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.09
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available