A13E (p.Ala13Glu) variant of MCCC1 (Q96RQ3)
A13E (p.Ala13Glu) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- ExAC rs757154849
- TOPMed rs757154849
- gnomAD rs757154849
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.50
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available