V8F (p.Val8Phe) variant of BRCA1 (P38398)
V8F (p.Val8Phe) 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 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V8F (p.Val8Phe) variant details
- p.Val8Phe
- rs528902306
- ClinGen CA10602119
- cosmic curated COSV10439
- ClinVar RCV001076436
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- ESM-1b 0.86
- AlphaMissense 0.23
- MetaLR 0.56
- MetaSVM -0.14
- CADD 9.87
- EVE 0.72
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)