G33S (p.Gly33Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G33S (p.Gly33Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G33S (p.Gly33Ser) variant details
- p.Gly33Ser
- gnomAD rs1270079545
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.91
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available