A14A (p.Ala14Ala) variant of COL3A1 (Collagen alpha-1(III) chain)
A14A (p.Ala14Ala) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs1576455600
- gnomAD 2-188974531-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available