I14N (p.Ile14Asn) variant of BRCA2 (P51587)
I14N (p.Ile14Asn) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
I14N (p.Ile14Asn) variant details
- p.Ile14Asn
- rs1241704385
- ClinGen CA387753028
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10056
- Uncertain significance
- Missense
- REVEL 0.13
- AlphaMissense 0.29
- MetaLR 0.01
- MetaSVM -1.04
- CADD 23.90
- PolyPhen-2 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)