V14L (p.Val14Leu) variant of BRCA1 (P38398)
V14L (p.Val14Leu) 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 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- rs2055732548
- ClinGen CA10602079
- ClinVar RCV001078127
- Ensembl rs2055732548
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.75
- MetaLR 0.49
- MetaSVM -0.10
- CADD 22.50
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)