N22D (p.Asn22Asp) variant of APC (Adenomatous polyposis coli protein)
N22D (p.Asn22Asp) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes published literature and structural context.
N22D (p.Asn22Asp) variant details
- p.Asn22Asp
- rs1415062077
- ClinGen CA16021480
- ClinVar RCV000562861
- ClinVar RCV000758737
- Uncertain significance
- Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.00
- PolyPhen-2 0.71
- SIFT 0.93
- ClinVar: Uncertain significance (Familial adenomatous polyposis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)