L78V (p.Leu78Val) variant of MRE11 (P49959)
L78V (p.Leu78Val) 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.
L78V (p.Leu78Val) variant details
- p.Leu78Val
- Ensembl rs1308023057
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.20
- AlphaMissense 0.11
- MetaLR 0.39
- MetaSVM -0.63
- CADD 18.50
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available