N26S (p.Asn26Ser) variant of RAC1 (P63000)
N26S (p.Asn26Ser) in RAC1 (P63000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
N26S (p.Asn26Ser) variant details
- p.Asn26Ser
- rs1782949423
- ClinGen CA366760056
- ClinVar RCV001267613
- ClinVar RCV001824437
- Pathogenic
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.54
- CADD 25.40
- PolyPhen-2 0.67
- SIFT 0.02
- ClinVar: Pathogenic (not provided; Inborn genetic diseases)
- EBI: Pathogenic (in dbSNP:rs2115193158)
- UniProt: Pathogenic (in dbSNP:rs2115193158)
- Most common in the Non-Finnish European population (allele frequency 9.1e-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)