D49N (p.Asp49Asn) variant of COL1A1 (Collagen alpha-1(I) chain)
D49N (p.Asp49Asn) 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 0.26 / 1. The record also includes structural context.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- NCI-TCGA Cosmic COSV5680
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- ESM-1b 0.00
- AlphaMissense 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available