L105P (p.Leu105Pro) variant of ABCC6 (O95255)
L105P (p.Leu105Pro) 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. 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.
L105P (p.Leu105Pro) variant details
- p.Leu105Pro
- rs1477424498
- ClinGen CA394893487
- ClinVar RCV003356551
- gnomAD rs1477424498
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.46
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)