M42I (p.Met42Ile) variant of ABCC6 (O95255)
M42I (p.Met42Ile) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, 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 0.22 / 1. The record also includes population frequency data and structural context.
M42I (p.Met42Ile) variant details
- p.Met42Ile
- ExAC rs756051632
- TOPMed rs756051632
- gnomAD rs756051632
- Uncertain significance
- Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.05
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Pseudoxanthoma elasticum, forme fruste; Arterial calcification,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available