Q19P (p.Gln19Pro) variant of BRCA1 (P38398)
Q19P (p.Gln19Pro) 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 0.69 / 1. The record also includes experimental measurements, published literature, and structural context.
Q19P (p.Gln19Pro) variant details
- p.Gln19Pro
- rs2055725680
- ClinGen CA10602046
- ClinVar RCV001076481
- ClinVar RCV001340949
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.34
- MetaLR 0.73
- MetaSVM 0.51
- PolyPhen-2 0.96
- SIFT 0.02
- EVE 0.80
- EBI: Likely pathogenic
- UniProt: Likely 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)