R7Q (p.Arg7Gln) variant of PML (Protein PML)
R7Q (p.Arg7Gln) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- gnomAD 15-73994832-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.10
- CADD 19.20
- PolyPhen-2 0.57
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available