L22V (p.Leu22Val) variant of BRCA1 (P38398)
L22V (p.Leu22Val) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in BC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes experimental measurements, published literature, and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- rs1597923402
- ClinGen CA10602027
- ClinVar RCV001072392
- Ensembl rs1597923402
- Likely benign
- in BC
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.50
- MetaLR 0.65
- MetaSVM 0.33
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.87
- EBI: Likely benign (in BC)
- UniProt: Likely benign (in BC)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.415
- 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)