Q6R (p.Gln6Arg) variant of ABCC4 (O15439)
Q6R (p.Gln6Arg) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
Q6R (p.Gln6Arg) variant details
- p.Gln6Arg
- ExAC rs755197392
- TOPMed rs755197392
- gnomAD rs755197392
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 4.8e-05)