S39N (p.Ser39Asn) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
S39N (p.Ser39Asn) in SLC9A3 (Sodium/hydrogen exchanger 3) 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 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
S39N (p.Ser39Asn) variant details
- p.Ser39Asn
- rs772053823
- ClinGen CA3176414
- ClinVar RCV001365777
- ClinVar RCV003169847
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0411
- REVEL 0.03
- CADD 0.41
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00021)
- 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)