V11I (p.Val11Ile) variant of BRCA1 (P38398)
V11I (p.Val11Ile) 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 0.58 / 1. The record also includes experimental measurements, published literature, and structural context.
V11I (p.Val11Ile) variant details
- p.Val11Ile
- rs1555601019
- ClinGen CA10602099
- ClinVar RCV001072346
- ClinVar RCV005408681
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- AlphaMissense 0.21
- MetaLR 0.57
- MetaSVM 0.19
- PolyPhen-2 0.99
- SIFT 0.22
- EVE 0.72
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.781
- 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)