R7H (p.Arg7His) variant of BRCA1 (P38398)
R7H (p.Arg7His) 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 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- rs144792613
- ClinGen CA001390
- NCI-TCGA Cosmic COSV5879
- cosmic curated COSV58802
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.44
- MetaSVM -0.45
- CADD 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -1.18
- 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)