S59S (p.Ser59Ser) variant of COL3A1 (Collagen alpha-1(III) chain)
S59S (p.Ser59Ser) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S59S (p.Ser59Ser) variant details
- p.Ser59Ser
- rs1404878392
- gnomAD 2-188984857-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 10.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available