S2L (p.Ser2Leu) variant of MCM5 (P33992)
S2L (p.Ser2Leu) in MCM5 (P33992) is a missense change. Clinical records from ClinVar, EBI, 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 0.47 / 1. The record also includes population frequency data and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- 1000Genomes rs535953237
- ExAC rs535953237
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.32
- MetaLR 0.15
- MetaSVM -0.67
- CADD 27.20
- PolyPhen-2 0.38
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available