A44T (p.Ala44Thr) variant of MCCC1 (Q96RQ3)
A44T (p.Ala44Thr) in MCCC1 (Q96RQ3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- 1000Genomes rs201216516
- ExAC rs201216516
- TOPMed rs201216516
- gnomAD rs201216516
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.28
- CADD 2.63
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available