P25R (p.Pro25Arg) variant of BRCA1 (P38398)
P25R (p.Pro25Arg) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes experimental measurements, published literature, and structural context.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- rs876660096
- ClinGen CA10602008
- ClinVar RCV001072404
- Ensembl rs876660096
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.84
- MetaSVM 0.80
- CADD 27.90
- EVE 0.87
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -4.68
- 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)