G61D (p.Gly61Asp) variant of ABCC6 (O95255)
G61D (p.Gly61Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G61D (p.Gly61Asp) variant details
- p.Gly61Asp
- rs72657696
- ClinGen CA279014404
- ClinVar RCV000499021
- UniProt VAR 013364
- Uncertain significance
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.35
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Variant of uncertain significance (in dbSNP:rs72657696)
- UniProt: Uncertain significance (in dbSNP:rs72657696)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PMID 11536079)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)