N30D (p.Asn30Asp) variant of APC (Adenomatous polyposis coli protein)
N30D (p.Asn30Asp) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
N30D (p.Asn30Asp) variant details
- p.Asn30Asp
- rs1754795045
- ClinGen CA16021532
- ClinVar RCV004570203
- ClinVar RCV004807294
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.14
- MetaSVM -0.92
- CADD 26.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)