L23P (p.Leu23Pro) variant of MRE11 (P49959)
L23P (p.Leu23Pro) 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 0.83 / 1. The record also includes population frequency data and structural context.
L23P (p.Leu23Pro) variant details
- p.Leu23Pro
- gnomAD rs1190829683
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.94
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.91
- CADD 28.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available