Q12H (p.Gln12His) variant of BRCA1 (P38398)
Q12H (p.Gln12His) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes experimental measurements, published literature, and structural context.
Q12H (p.Gln12His) variant details
- p.Gln12His
- rs763230080
- ClinGen CA10602090
- ClinVar RCV001077669
- ExAC rs763230080
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.54
- MetaLR 0.54
- MetaSVM -0.01
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.65
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score 0.036
- 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)