V119A (p.Val119Ala) variant of ABCC6 (O95255)
V119A (p.Val119Ala) 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 0.17 / 1. The record also includes population frequency data and structural context.
V119A (p.Val119Ala) variant details
- p.Val119Ala
- TOPMed rs2049009427
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.06
- CADD 17.30
- PolyPhen-2 0.08
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available