L72F (p.Leu72Phe) variant of MRE11 (P49959)
L72F (p.Leu72Phe) in MRE11 (P49959) is a missense change. Clinical records from ClinVar 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 0.49 / 1. The record also includes population frequency data and structural context.
L72F (p.Leu72Phe) variant details
- p.Leu72Phe
- Ensembl rs1565238989
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.62
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available