V8I (p.Val8Ile) variant of BRCA1 (P38398)
V8I (p.Val8Ile) 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 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V8I (p.Val8Ile) variant details
- p.Val8Ile
- rs528902306
- ClinGen CA055451
- cosmic curated COSV10052
- ClinVar RCV000573882
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.56
- MetaSVM -0.14
- CADD 9.87
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -1.71
- 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)