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 0.56 / 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 0.558
- AlphaMissense 0.25
- MetaLR 0.58
- MetaSVM 0.02
- PolyPhen-2 0.65
- SIFT 0.00
- EVE 0.77
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.69
- 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)