G1321D (p.Gly1321Asp) variant of ABCC6 (O95255)
G1321D (p.Gly1321Asp) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G1321D (p.Gly1321Asp) variant details
- p.Gly1321Asp
- ExAC rs754656944
- gnomAD rs754656944
- Uncertain significance
- Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.95
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Pseudoxanthoma elasticum, forme fruste; Arterial calcification,)
- UniProt: Uncertain significance (in PXE)
- Population evidence available
- Structural context available