L146S (p.Leu146Ser) variant of ABCC6 (O95255)
L146S (p.Leu146Ser) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar 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 0.21 / 1. The record also includes population frequency data and structural context.
L146S (p.Leu146Ser) variant details
- p.Leu146Ser
- ExAC rs761526463
- TOPMed rs761526463
- gnomAD rs761526463
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.17
- CADD 19.10
- PolyPhen-2 0.16
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available