R57S (p.Arg57Ser) variant of MCCC1 (Q96RQ3)
R57S (p.Arg57Ser) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R57S (p.Arg57Ser) variant details
- p.Arg57Ser
- gnomAD rs1275408389
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.91
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available