L44V (p.Leu44Val) variant of ABCC6 (O95255)
L44V (p.Leu44Val) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- rs940803158
- ClinGen CA279014406
- ClinVar RCV000499271
- ClinVar RCV002475997
- Uncertain significance
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.33
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)