Q19K (p.Gln19Lys) variant of BRCA1 (P38398)
Q19K (p.Gln19Lys) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes experimental measurements, published literature, and structural context.
Q19K (p.Gln19Lys) variant details
- p.Gln19Lys
- rs397509299
- ClinGen CA10602048
- ClinVar RCV001076479
- Ensembl rs397509299
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 0.28
- MetaLR 0.75
- MetaSVM 0.61
- PolyPhen-2 0.96
- SIFT 0.08
- EVE 0.63
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.538
- 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)