A14A (p.Ala14Ala) variant of COL6A1 (Collagen alpha-1(VI) chain)
A14A (p.Ala14Ala) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs1176083983
- gnomAD 21-45981892-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 13.20
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available