V39A (p.Val39Ala) variant of ABCC6 (O95255)
V39A (p.Val39Ala) 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 0.10 / 1. The record also includes population frequency data and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- TOPMed rs2049083798
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0955
- REVEL 0.06
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available