P25L (p.Pro25Leu) variant of BRCA1 (P38398)
P25L (p.Pro25Leu) 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 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- rs876660096
- ClinGen CA10580713
- ClinVar RCV000223256
- ClinVar RCV000227670
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.84
- AlphaMissense 0.94
- MetaLR 0.84
- MetaSVM 0.80
- CADD 27.30
- PolyPhen-2 0.99
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)