I49F (p.Ile49Phe) variant of MCCC1 (Q96RQ3)
I49F (p.Ile49Phe) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
I49F (p.Ile49Phe) variant details
- p.Ile49Phe
- 1000Genomes rs539670122
- ExAC rs539670122
- gnomAD rs539670122
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.60
- CADD 23.80
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available