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 0.87 / 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 0.874
- AlphaMissense 0.94
- MetaLR 0.84
- MetaSVM 0.80
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.87
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.63
- 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)