R7S (p.Arg7Ser) variant of BRCA1 (P38398)
R7S (p.Arg7Ser) 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 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- rs80356994
- ClinGen CA054990
- ClinVar RCV000637702
- ClinVar RCV001078111
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.60
- MetaSVM -0.34
- CADD 21.80
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-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)