S88N (p.Ser88Asn) variant of SMAD2 (SMAD family member 2)
S88N (p.Ser88Asn) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S88N (p.Ser88Asn) variant details
- p.Ser88Asn
- rs1173764083
- ClinGen CA402502407
- cosmic curated COSV10940
- ClinVar RCV004523808
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.42
- CADD 21.60
- PolyPhen-2 0.06
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)