A6V (p.Ala6Val) variant of COL2A1 (Collagen alpha-1(II) chain)
A6V (p.Ala6Val) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- 1000Genomes rs369359592
- ExAC rs369359592
- TOPMed rs369359592
- gnomAD rs369359592
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.27
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.53
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available