P21L (p.Pro21Leu) variant of PML (Protein PML)
P21L (p.Pro21Leu) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- gnomAD 15-73994874-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.11
- CADD 21.50
- PolyPhen-2 0.54
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available