R44L (p.Arg44Leu) variant of MCM2 (P49736)
R44L (p.Arg44Leu) in MCM2 (P49736) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in DFNA70. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R44L (p.Arg44Leu) variant details
- p.Arg44Leu
- 1000Genomes rs572334760
- ExAC rs572334760
- TOPMed rs572334760
- gnomAD rs572334760
- Uncertain significance
- in DFNA70
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.36
- MetaLR 0.08
- MetaSVM -1.05
- CADD 24.30
- PolyPhen-2 0.31
- SIFT 0.07
- EBI: Variant of uncertain significance (in DFNA70)
- UniProt: Uncertain significance (in DFNA70)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available