T33A (p.Thr33Ala) variant of MCCC2 (Q9HCC0)
T33A (p.Thr33Ala) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T33A (p.Thr33Ala) variant details
- p.Thr33Ala
- TOPMed rs1182092562
- gnomAD rs1182092562
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.48
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available