F71L (p.Phe71Leu) variant of MCM6 (Q14566)
F71L (p.Phe71Leu) 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 0.37 / 1. The record also includes population frequency data and structural context.
F71L (p.Phe71Leu) variant details
- p.Phe71Leu
- ExAC rs776345642
- TOPMed rs776345642
- gnomAD rs776345642
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available