K30N (p.Lys30Asn) variant of PALB2 (Partner and localizer of BRCA2)
K30N (p.Lys30Asn) in PALB2 (Partner and localizer of BRCA2) 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 0.41 / 1. The record also includes published literature and structural context.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- rs515726130
- ClinGen CA269663
- ClinVar RCV001030118
- TOPMed rs515726130
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- AlphaMissense 0.92
- MetaLR 0.14
- MetaSVM -0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- 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)