H48Y (p.His48Tyr) variant of COL1A1 (Collagen alpha-1(I) chain)
H48Y (p.His48Tyr) 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 0.27 / 1. The record also includes structural context.
H48Y (p.His48Tyr) variant details
- p.His48Tyr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available