G58V (p.Gly58Val) variant of MRE11 (P49959)
G58V (p.Gly58Val) in MRE11 (P49959) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G58V (p.Gly58Val) variant details
- p.Gly58Val
- TOPMed rs1482890077
- gnomAD rs1482890077
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.93
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available