S3G (p.Ser3Gly) variant of COL1A2 (Collagen alpha-2(I) chain)
S3G (p.Ser3Gly) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S3G (p.Ser3Gly) variant details
- p.Ser3Gly
- gnomAD 7-94395038-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.59
- CADD 24.70
- PolyPhen-2 0.59
- SIFT 0.34
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available