V8A (p.Val8Ala) variant of BRCA1 (P38398)
V8A (p.Val8Ala) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes experimental measurements, published literature, and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- rs2055739664
- ClinGen CA10602117
- ClinVar RCV001076438
- ClinVar RCV002258132
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.60
- MetaSVM 0.05
- CADD 21.00
- EVE 0.81
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)