A40A (p.Ala40Ala) variant of COL3A1 (Collagen alpha-1(III) chain)
A40A (p.Ala40Ala) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs138115610
- gnomAD 2-188984800-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.78
- Most common in the African/African-American population (allele frequency 0.00034)
- Structural context available
- Literature evidence available