T63R (p.Thr63Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
T63R (p.Thr63Arg) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T63R (p.Thr63Arg) variant details
- p.Thr63Arg
- 1000Genomes rs201094892
- ExAC rs201094892
- TOPMed rs201094892
- gnomAD rs201094892
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.33
- CADD 21.20
- PolyPhen-2 0.90
- SIFT 0.15
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available