T7M (p.Thr7Met) variant of COL1A2 (Collagen alpha-2(I) chain)
T7M (p.Thr7Met) in COL1A2 (Collagen alpha-2(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 0.42 / 1. The record also includes population frequency data and structural context.
T7M (p.Thr7Met) variant details
- p.Thr7Met
- rs543810166
- NCI-TCGA Cosmic COSV9980
- cosmic curated COSV99800
- 1000Genomes rs543810166
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.31
- CADD 22.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available