M23K (p.Met23Lys) variant of PML (Protein PML)
M23K (p.Met23Lys) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
M23K (p.Met23Lys) variant details
- p.Met23Lys
- gnomAD 15-73994880-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.15
- CADD 23.40
- PolyPhen-2 0.79
- SIFT 0.04
- Most common in the 1KG:GIH population (allele frequency 0.013)
- Structural context available
- Literature evidence available