I79V (p.Ile79Val) variant of MCM6 (Q14566)
I79V (p.Ile79Val) in MCM6 (Q14566) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I79V (p.Ile79Val) variant details
- p.Ile79Val
- 1000Genomes rs567110296
- ExAC rs567110296
- gnomAD rs567110296
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.11
- CADD 18.50
- PolyPhen-2 0.04
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available