T58I (p.Thr58Ile) variant of COL6A2 (Collagen alpha-2(VI) chain)
T58I (p.Thr58Ile) in COL6A2 (Collagen alpha-2(VI) 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 0.50 / 1. The record also includes population frequency data and structural context.
T58I (p.Thr58Ile) variant details
- p.Thr58Ile
- rs1182740901
- gnomAD rs1182740901
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.34
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available