R7P (p.Arg7Pro) variant of BRCA1 (P38398)
R7P (p.Arg7Pro) 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 0.29 / 1. The record also includes experimental measurements, published literature, and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- rs144792613
- ClinGen CA10602122
- ClinVar RCV001072326
- ESP rs144792613
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.44
- MetaSVM -0.45
- CADD 0.03
- EVE 0.60
- EBI: Likely benign
- UniProt: Likely benign
- 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)