R11Q (p.Arg11Gln) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
R11Q (p.Arg11Gln) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- rs557874732
- ClinGen CA3176426
- ClinVar RCV001898918
- ClinVar RCV002555348
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.12
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)