A5V (p.Ala5Val) variant of BRCA1 (P38398)
A5V (p.Ala5Val) 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 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs1335137805
- ClinGen CA10602130
- ClinVar RCV000698926
- ClinVar RCV001077640
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.67
- MetaSVM -0.10
- CADD 2.58
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -1.72
- 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)