N32D (p.Asn32Asp) variant of APC (Adenomatous polyposis coli protein)
N32D (p.Asn32Asp) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N32D (p.Asn32Asp) variant details
- p.Asn32Asp
- rs587781972
- ClinGen CA016000
- ClinVar RCV000130360
- ClinVar RCV003460923
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.49
- MetaSVM 0.11
- CADD 25.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)