R60W (p.Arg60Trp) variant of ABCC6 (O95255)
R60W (p.Arg60Trp) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R60W (p.Arg60Trp) variant details
- p.Arg60Trp
- ExAC rs761289104
- TOPMed rs761289104
- gnomAD rs761289104
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.08
- CADD 23.20
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available