T80A (p.Thr80Ala) variant of COMP (P49747)
T80A (p.Thr80Ala) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T80A (p.Thr80Ala) variant details
- p.Thr80Ala
- rs2512854508
- ClinGen CA404898901
- ClinVar RCV003544877
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available