R66L (p.Arg66Leu) variant of MCCC1 (Q96RQ3)
R66L (p.Arg66Leu) 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 0.71 / 1. The record also includes population frequency data and structural context.
R66L (p.Arg66Leu) variant details
- p.Arg66Leu
- 1000Genomes rs569042803
- ExAC rs569042803
- TOPMed rs569042803
- gnomAD rs569042803
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.86
- CADD 25.50
- PolyPhen-2 0.94
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available