G98S (p.Gly98Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G98S (p.Gly98Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G98S (p.Gly98Ser) variant details
- p.Gly98Ser
- TOPMed rs1234510564
- gnomAD rs1234510564
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available