I114F (p.Ile114Phe) variant of MCCC1 (Q96RQ3)
I114F (p.Ile114Phe) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
I114F (p.Ile114Phe) variant details
- p.Ile114Phe
- gnomAD rs1294623252
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.81
- CADD 25.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available