Q6L (p.Gln6Leu) variant of ABCC4 (O15439)
Q6L (p.Gln6Leu) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
Q6L (p.Gln6Leu) variant details
- p.Gln6Leu
- ExAC rs755197392
- TOPMed rs755197392
- gnomAD rs755197392
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)