E90K (p.Glu90Lys) variant of COL1A1 (Collagen alpha-1(I) chain)
E90K (p.Glu90Lys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E90K (p.Glu90Lys) variant details
- p.Glu90Lys
- rs748550422
- NCI-TCGA Cosmic COSV9986
- ExAC rs748550422
- gnomAD rs748550422
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available