Q48R (p.Gln48Arg) variant of MRE11 (P49959)
Q48R (p.Gln48Arg) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. 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.
Q48R (p.Gln48Arg) variant details
- p.Gln48Arg
- rs2496652464
- ClinGen CA2739270761
- ClinVar RCV003757577
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.19
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available