Q19H (p.Gln19His) variant of BRCA1 (P38398)
Q19H (p.Gln19His) in BRCA1 (P38398) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes experimental measurements, published literature, and structural context.
Q19H (p.Gln19His) variant details
- p.Gln19His
- rs2055725365
- ClinGen CA10602042
- ClinVar RCV001077697
- Ensembl rs2055725365
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- AlphaMissense 0.84
- MetaLR 0.77
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- UniProt: Variant assessed as somatic; moderate impact.
- 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)