A84D (p.Ala84Asp) variant of COL1A1 (Collagen alpha-1(I) chain)
A84D (p.Ala84Asp) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A84D (p.Ala84Asp) variant details
- p.Ala84Asp
- ExAC rs775095655
- TOPMed rs775095655
- gnomAD rs775095655
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.20
- ESM-1b 0.38
- AlphaMissense 0.27
- CADD 24.20
- PolyPhen-2 0.06
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available