S86C (p.Ser86Cys) variant of MCCC1 (Q96RQ3)
S86C (p.Ser86Cys) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
S86C (p.Ser86Cys) variant details
- p.Ser86Cys
- ExAC rs749460045
- TOPMed rs749460045
- gnomAD rs749460045
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.88
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available