I21S (p.Ile21Ser) variant of BRCA1 (P38398)
I21S (p.Ile21Ser) 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 0.46 / 1. The record also includes experimental measurements, published literature, and structural context.
I21S (p.Ile21Ser) variant details
- p.Ile21Ser
- rs1135401834
- ClinGen CA10602030
- ClinVar RCV000496697
- ClinVar RCV001072386
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- ESM-1b 0.00
- AlphaMissense 0.73
- MetaLR 0.63
- MetaSVM -0.16
- CADD 22.90
- EVE 0.54
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -2.06
- 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)