P25T (p.Pro25Thr) variant of BRCA1 (P38398)
P25T (p.Pro25Thr) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- rs397509313
- ClinGen CA003845
- cosmic curated COSV10052
- ClinVar RCV000577370
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.82
- ESM-1b 0.55
- AlphaMissense 0.94
- MetaLR 0.76
- MetaSVM 0.64
- CADD 26.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)