L44F (p.Leu44Phe) variant of MRE11 (P49959)
L44F (p.Leu44Phe) in MRE11 (P49959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L44F (p.Leu44Phe) variant details
- p.Leu44Phe
- Ensembl rs2135140923
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.60
- CADD 24.30
- PolyPhen-2 0.82
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available