L22S (p.Leu22Ser) variant of BRCA1 (P38398)
L22S (p.Leu22Ser) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes experimental measurements, published literature, and structural context.
L22S (p.Leu22Ser) variant details
- p.Leu22Ser
- rs80357438
- ClinGen CA003779
- ClinVar RCV000049081
- ClinVar RCV000083224
- Pathogenic
- in BC
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.79
- MetaSVM 0.67
- CADD 26.50
- EVE 0.86
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -4.14
- Cited in: High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. (PMID 9609997)
- Cited in: Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. (PMID 10323242)