G89D (p.Gly89Asp) variant of COL1A1 (Collagen alpha-1(I) chain)
G89D (p.Gly89Asp) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G89D (p.Gly89Asp) variant details
- p.Gly89Asp
- rs770277944
- ExAC rs770277944
- gnomAD rs770277944
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available