Q154P (p.Gln154Pro) variant of ABCC6 (O95255)
Q154P (p.Gln154Pro) in ABCC6 (O95255) 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 and structural context.
Q154P (p.Gln154Pro) variant details
- p.Gln154Pro
- 1000Genomes rs563277493
- TOPMed rs563277493
- gnomAD rs563277493
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.20
- CADD 17.10
- PolyPhen-2 0.45
- SIFT 0.15
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available