G61V (p.Gly61Val) variant of MCM2 (P49736)
G61V (p.Gly61Val) in MCM2 (P49736) is a missense change. Clinical records from ClinVar 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 0.26 / 1. The record also includes population frequency data and structural context.
G61V (p.Gly61Val) variant details
- p.Gly61Val
- ExAC rs778367347
- TOPMed rs778367347
- gnomAD rs778367347
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.05
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available