D6E (p.Asp6Glu) variant of COL1A1 (Collagen alpha-1(I) chain)
D6E (p.Asp6Glu) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- TOPMed rs977701735
- gnomAD rs977701735
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.75
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.12
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available