G61S (p.Gly61Ser) variant of ABCC6 (O95255)
G61S (p.Gly61Ser) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G61S (p.Gly61Ser) variant details
- p.Gly61Ser
- ExAC rs745506209
- TOPMed rs745506209
- gnomAD rs745506209
- Uncertain significance
- Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.22
- CADD 24.10
- PolyPhen-2 0.94
- SIFT 0.03
- ClinVar: Uncertain significance (Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxa)
- EBI: Variant of uncertain significance (in dbSNP:rs72657696)
- UniProt: Uncertain significance (in dbSNP:rs72657696)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available