T98S (p.Thr98Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
T98S (p.Thr98Ser) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T98S (p.Thr98Ser) variant details
- p.Thr98Ser
- rs76646066
- ClinGen CA233844
- ClinVar RCV000153099
- ClinVar RCV000381279
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -0.98
- CADD 7.27
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)