P25S (p.Pro25Ser) variant of BRCA1 (P38398)
P25S (p.Pro25Ser) 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 0.86 / 1. The record also includes experimental measurements, published literature, and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- rs397509313
- ClinGen CA10602010
- ClinVar RCV001072403
- Ensembl rs397509313
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.93
- MetaLR 0.81
- MetaSVM 0.73
- PolyPhen-2 0.99
- SIFT 0.12
- EVE 0.87
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)