K20E (p.Lys20Glu) variant of BRCA1 (P38398)
K20E (p.Lys20Glu) in BRCA1 (P38398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary breast ovarian cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes experimental measurements, published literature, and structural context.
K20E (p.Lys20Glu) variant details
- p.Lys20Glu
- rs2055725050
- ClinGen CA10602040
- ClinVar RCV001077699
- ClinVar RCV001241842
- Uncertain significance
- Hereditary breast ovarian cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- ESM-1b 1.00
- AlphaMissense 0.63
- MetaLR 0.66
- MetaSVM 0.39
- CADD 25.30
- EVE 0.70
- ClinVar: Uncertain significance (Hereditary breast ovarian cancer syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -2.68
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)