V14D (p.Val14Asp) variant of BRCA1 (P38398)
V14D (p.Val14Asp) 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 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V14D (p.Val14Asp) variant details
- p.Val14Asp
- rs2055732014
- ClinGen CA10602077
- cosmic curated COSV10462
- ClinVar RCV001072359
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.48
- MetaSVM -0.01
- CADD 24.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -1.6
- 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)