C75F (p.Cys75Phe) variant of MRE11 (P49959)
C75F (p.Cys75Phe) in MRE11 (P49959) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C75F (p.Cys75Phe) variant details
- p.Cys75Phe
- ExAC rs772423554
- gnomAD rs772423554
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.82
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available