V38I (p.Val38Ile) variant of MRE11 (P49959)
V38I (p.Val38Ile) 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 0.28 / 1. The record also includes population frequency data and structural context.
V38I (p.Val38Ile) variant details
- p.Val38Ile
- TOPMed rs786202896
- gnomAD rs786202896
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.13
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available