R34S (p.Arg34Ser) variant of MCM2 (P49736)
R34S (p.Arg34Ser) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R34S (p.Arg34Ser) variant details
- p.Arg34Ser
- ExAC rs758941392
- TOPMed rs758941392
- gnomAD rs758941392
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -1.04
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available