A36E (p.Ala36Glu) variant of COL6A3 (Collagen alpha-3(VI) chain)
A36E (p.Ala36Glu) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A36E (p.Ala36Glu) variant details
- p.Ala36Glu
- 1000Genomes rs572020866
- ExAC rs572020866
- TOPMed rs572020866
- gnomAD rs572020866
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.33
- MetaLR 0.29
- MetaSVM -0.78
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available