E29A (p.Glu29Ala) variant of BRCA1 (P38398)
E29A (p.Glu29Ala) 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 0.79 / 1. The record also includes experimental measurements, published literature, and structural context.
E29A (p.Glu29Ala) variant details
- p.Glu29Ala
- rs773841328
- ClinGen CA10601983
- ClinVar RCV001076954
- ExAC rs773841328
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.74
- MetaSVM 0.58
- CADD 25.70
- EVE 0.87
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -4.47
- 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)