P49A (p.Pro49Ala) variant of ABCC6 (O95255)
P49A (p.Pro49Ala) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Arterial calcification, generalized, of infancy, 2; Pse. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P49A (p.Pro49Ala) variant details
- p.Pro49Ala
- ExAC rs751588595
- TOPMed rs751588595
- gnomAD rs751588595
- Uncertain significance
- Inborn genetic diseases; Arterial calcification, generalized, of infancy, 2; Pse
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.42
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Arterial calcification, generalized, of)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- Structural context available