E85K (p.Glu85Lys) variant of COL1A1 (Collagen alpha-1(I) chain)
E85K (p.Glu85Lys) 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 0.13 / 1. The record also includes population frequency data and structural context.
E85K (p.Glu85Lys) variant details
- p.Glu85Lys
- rs1175987778
- gnomAD rs1175987778
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.11
- ESM-1b 0.09
- AlphaMissense 0.07
- CADD 6.06
- PolyPhen-2 0.00
- SIFT 0.79
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available