S40R (p.Ser40Arg) variant of MCM6 (Q14566)
S40R (p.Ser40Arg) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S40R (p.Ser40Arg) variant details
- p.Ser40Arg
- 1000Genomes rs150079280
- ESP rs150079280
- ExAC rs150079280
- TOPMed rs150079280
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.21
- AlphaMissense 0.43
- MetaLR 0.11
- MetaSVM -1.02
- CADD 2.58
- PolyPhen-2 0.28
- Most common in the 1KG:PUR population (allele frequency 0.01)
- Structural context available