R48S (p.Arg48Ser) variant of MCM5 (P33992)
R48S (p.Arg48Ser) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R48S (p.Arg48Ser) variant details
- p.Arg48Ser
- TOPMed rs1309249103
- gnomAD rs1309249103
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.21
- MetaLR 0.08
- MetaSVM -1.06
- CADD 23.10
- PolyPhen-2 0.20
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available