A19E (p.Ala19Glu) variant of COL6A1 (Collagen alpha-1(VI) chain)
A19E (p.Ala19Glu) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD 21-45981906-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.16
- MetaLR 0.38
- MetaSVM -0.70
- CADD 15.80
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available