P100R (p.Pro100Arg) variant of MCCC1 (Q96RQ3)
P100R (p.Pro100Arg) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P100R (p.Pro100Arg) variant details
- p.Pro100Arg
- TOPMed rs1717923164
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.81
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available