F97L (p.Phe97Leu) variant of MCM6 (Q14566)
F97L (p.Phe97Leu) in MCM6 (Q14566) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
F97L (p.Phe97Leu) variant details
- p.Phe97Leu
- rs779470520
- NCI-TCGA Cosmic COSV5146
- ExAC rs779470520
- gnomAD rs779470520
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.27
- CADD 13.70
- PolyPhen-2 0.41
- SIFT 0.45
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available