G27D (p.Gly27Asp) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
G27D (p.Gly27Asp) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- rs774980944
- ClinGen CA3176421
- ClinVar RCV001919319
- ClinVar RCV004671531
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.04
- CADD 6.25
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00011)
- 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)