Q11R (p.Gln11Arg) variant of ABCC6 (O95255)
Q11R (p.Gln11Arg) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
Q11R (p.Gln11Arg) variant details
- p.Gln11Arg
- TOPMed rs1474254372
- gnomAD rs1474254372
- Missense
- Variant Prioritization Score for Impact Estimate 0.0358
- REVEL 0.01
- CADD 1.13
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available