N30Y (p.Asn30Tyr) variant of BRCA2 (P51587)
N30Y (p.Asn30Tyr) 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.
N30Y (p.Asn30Tyr) variant details
- p.Asn30Tyr
- gnomAD rs1253463092
- Uncertain significance
- Missense
- MetaLR 0.01
- MetaSVM -1.11
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance