K20I (p.Lys20Ile) variant of BRCA1 (P38398)
K20I (p.Lys20Ile) in BRCA1 (P38398) is a missense change. Clinical records from UniProt describe it as breast-ovarian cancer, familial, susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes experimental measurements, published literature, and structural context.
K20I (p.Lys20Ile) variant details
- p.Lys20Ile
- rs2055724752
- ClinGen CA10602036
- ClinVar RCV001077745
- Ensembl rs2055724752
- Breast-ovarian cancer, familial, susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.78
- MetaSVM 0.63
- CADD 25.20
- EVE 0.86
- UniProt: Breast-ovarian cancer, familial, susceptibility
- 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)