K80E (p.Lys80Glu) variant of RAD51 (Q06609)
K80E (p.Lys80Glu) in RAD51 (Q06609) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K80E (p.Lys80Glu) variant details
- p.Lys80Glu
- rs1312157762
- ClinGen CA391749333
- ClinVar RCV003356155
- TOPMed rs1312157762
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.32
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)