D104E (p.Asp104Glu) variant of COL1A1 (Collagen alpha-1(I) chain)
D104E (p.Asp104Glu) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D104E (p.Asp104Glu) variant details
- p.Asp104Glu
- ESP rs375517119
- ExAC rs375517119
- TOPMed rs375517119
- gnomAD rs375517119
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 6.42
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available