L7P (p.Leu7Pro) variant of MRE11 (P49959)
L7P (p.Leu7Pro) in MRE11 (P49959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- TOPMed rs1947321734
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.20
- CADD 18.20
- PolyPhen-2 0.26
- SIFT 0.11
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available