N89D (p.Asn89Asp) variant of PKD1 (Polycystin-1)
N89D (p.Asn89Asp) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N89D (p.Asn89Asp) variant details
- p.Asn89Asp
- rs1287585087
- ClinGen CA394396193
- ClinVar RCV003899175
- ClinVar RCV005455908
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.09
- MetaLR 0.19
- MetaSVM -0.91
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.4e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)