D49H (p.Asp49His) variant of COL1A1 (Collagen alpha-1(I) chain)
D49H (p.Asp49His) 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 0.86 / 1. The record also includes structural context.
D49H (p.Asp49His) variant details
- p.Asp49His
- NCI-TCGA Cosmic COSV5680
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- ESM-1b 1.00
- AlphaMissense 0.70
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available