N91D (p.Asn91Asp) variant of SMAD2 (SMAD family member 2)
N91D (p.Asn91Asp) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. 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.
N91D (p.Asn91Asp) variant details
- p.Asn91Asp
- rs750419429
- ClinGen CA8956318
- ClinVar RCV001898342
- ClinVar RCV004041489
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.29
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)