A19P (p.Ala19Pro) variant of COL6A1 (Collagen alpha-1(VI) chain)
A19P (p.Ala19Pro) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- gnomAD rs1212976682
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.32
- CADD 12.50
- PolyPhen-2 0.18
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available