A5P (p.Ala5Pro) variant of BRCA1 (P38398)
A5P (p.Ala5Pro) 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 0.48 / 1. The record also includes experimental measurements, published literature, and structural context.
A5P (p.Ala5Pro) variant details
- p.Ala5Pro
- rs1597923713
- ClinGen CA10602134
- ClinVar RCV001011371
- ClinVar RCV001076426
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.10
- MetaLR 0.64
- MetaSVM -0.01
- PolyPhen-2 0.65
- SIFT 0.58
- EVE 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score 0.079
- 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)