R60L (p.Arg60Leu) variant of ABCC6 (O95255)
R60L (p.Arg60Leu) in ABCC6 (O95255) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R60L (p.Arg60Leu) variant details
- p.Arg60Leu
- 1000Genomes rs183648123
- ExAC rs183648123
- TOPMed rs183648123
- gnomAD rs183648123
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.09
- CADD 19.90
- PolyPhen-2 0.07
- SIFT 0.04
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available