L6H (p.Leu6His) variant of BRCA1 (P38398)
L6H (p.Leu6His) 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 0.36 / 1. The record also includes experimental measurements, published literature, and structural context.
L6H (p.Leu6His) variant details
- p.Leu6His
- rs2055741739
- ClinGen CA10602126
- ClinVar RCV001078105
- Ensembl rs2055741739
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- AlphaMissense 0.09
- MetaLR 0.35
- MetaSVM -0.69
- PolyPhen-2 0.03
- SIFT 0.05
- EVE 0.10
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score 0.147
- 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)