G61R (p.Gly61Arg) variant of ABCC6 (O95255)
G61R (p.Gly61Arg) in ABCC6 (O95255) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G61R (p.Gly61Arg) variant details
- p.Gly61Arg
- ExAC rs745506209
- TOPMed rs745506209
- gnomAD rs745506209
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.36
- CADD 23.10
- PolyPhen-2 0.98
- SIFT 0.07
- EBI: Variant of uncertain significance (in dbSNP:rs72657696)
- UniProt: Uncertain significance (in dbSNP:rs72657696)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available