T98P (p.Thr98Pro) variant of COL6A3 (Collagen alpha-3(VI) chain)
T98P (p.Thr98Pro) in COL6A3 (Collagen alpha-3(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 0.42 / 1. The record also includes population frequency data and structural context.
T98P (p.Thr98Pro) variant details
- p.Thr98Pro
- 1000Genomes rs76646066
- ExAC rs76646066
- TOPMed rs76646066
- gnomAD rs76646066
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.50
- MetaLR 0.49
- MetaSVM -0.37
- CADD 22.50
- PolyPhen-2 0.58
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available