T91A (p.Thr91Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
T91A (p.Thr91Ala) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T91A (p.Thr91Ala) variant details
- p.Thr91Ala
- rs1252498034
- ClinGen CA384525846
- ClinVar RCV002041192
- TOPMed rs1252498034
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.08
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available