Q19L (p.Gln19Leu) variant of BRCA1 (P38398)
Q19L (p.Gln19Leu) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes experimental measurements, published literature, and structural context.
Q19L (p.Gln19Leu) variant details
- p.Gln19Leu
- rs2055725680
- ClinGen CA10602044
- ClinVar RCV001076483
- Ensembl rs2055725680
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.76
- MetaSVM 0.59
- CADD 23.50
- EVE 0.71
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -3.02
- 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)