N30T (p.Asn30Thr) variant of BRCA2 (P51587)
N30T (p.Asn30Thr) in BRCA2 (P51587) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
N30T (p.Asn30Thr) variant details
- p.Asn30Thr
- gnomAD 13-32319098-A-C
- Missense
- REVEL 0.10
- MetaLR 0.02
- MetaSVM -1.13
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Literature evidence available