D29Y (p.Asp29Tyr) variant of MRE11 (P49959)
D29Y (p.Asp29Tyr) 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 0.83 / 1. The record also includes population frequency data and structural context.
D29Y (p.Asp29Tyr) variant details
- p.Asp29Tyr
- ExAC rs767339843
- gnomAD rs767339843
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.86
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available