D51G (p.Asp51Gly) variant of COL1A1 (Collagen alpha-1(I) chain)
D51G (p.Asp51Gly) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D51G (p.Asp51Gly) variant details
- p.Asp51Gly
- TOPMed rs917540852
- gnomAD rs917540852
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available