A4V (p.Ala4Val) variant of PML (Protein PML)
A4V (p.Ala4Val) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD rs1225562023
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.04
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available