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 uncertain significance. 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.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- rs2055732548
- ClinGen CA10602079
- ClinVar RCV001078127
- Ensembl rs2055732548
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.60
- AlphaMissense 0.19
- MetaLR 0.49
- MetaSVM -0.10
- CADD 23.90
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score 0.163
- 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)