A5G (p.Ala5Gly) variant of BRCA1 (P38398)
A5G (p.Ala5Gly) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes experimental measurements, published literature, and structural context.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- rs1335137805
- ClinGen CA10602131
- ClinVar RCV001077639
- gnomAD rs1335137805
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- AlphaMissense 0.12
- MetaLR 0.67
- MetaSVM -0.10
- PolyPhen-2 0.01
- SIFT 0.18
- EVE 0.17
- EBI: Likely benign
- UniProt: Likely benign
- 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)