V11A (p.Val11Ala) variant of BRCA1 (P38398)
V11A (p.Val11Ala) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes experimental measurements, published literature, and structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- rs80357017
- ClinGen CA002131
- ClinVar RCV000111609
- ClinVar RCV001019782
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.81
- MetaLR 0.55
- MetaSVM 0.11
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.83
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)