V25D (p.Val25Asp) variant of COL6A2 (Collagen alpha-2(VI) chain)
V25D (p.Val25Asp) in COL6A2 (Collagen alpha-2(VI) chain) 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 0.30 / 1. The record also includes population frequency data and structural context.
V25D (p.Val25Asp) variant details
- p.Val25Asp
- ExAC rs757742434
- TOPMed rs757742434
- gnomAD rs757742434
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.41
- CADD 14.20
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available