S9G (p.Ser9Gly) variant of COL3A1 (Collagen alpha-1(III) chain)
S9G (p.Ser9Gly) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S9G (p.Ser9Gly) variant details
- p.Ser9Gly
- gnomAD 2-188974514-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.30
- MetaLR 0.52
- MetaSVM -0.39
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available