I114V (p.Ile114Val) variant of MCCC1 (Q96RQ3)
I114V (p.Ile114Val) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I114V (p.Ile114Val) variant details
- p.Ile114Val
- gnomAD rs1294623252
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.38
- CADD 22.70
- PolyPhen-2 0.49
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available