K20* (p.Lys20Ter) variant of BRCA1 (P38398)
K20* (p.Lys20Ter) in BRCA1 (P38398) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes experimental measurements, published literature, and structural context.
K20* (p.Lys20Ter) variant details
- p.Lys20Ter
- rs2055725050
- ClinGen CA10602039
- ClinVar RCV001077700
- Ensembl rs2055725050
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.661
- MetaLR 0.66
- MetaSVM 0.39
- CADD 25.30
- EVE 0.70
- MutPred 0.43
- 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)