V46A (p.Val46Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
V46A (p.Val46Ala) in COL2A1 (Collagen alpha-1(II) chain) 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 0.64 / 1. The record also includes population frequency data and structural context.
V46A (p.Val46Ala) variant details
- p.Val46Ala
- TOPMed rs1940159813
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.62
- CADD 27.50
- PolyPhen-2 0.96
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available