R31I (p.Arg31Ile) variant of NR2E3 (Q9Y5X4)
R31I (p.Arg31Ile) in NR2E3 (Q9Y5X4) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R31I (p.Arg31Ile) variant details
- p.Arg31Ile
- rs2054172755
- ClinGen CA393031756
- ClinVar RCV002643535
- ClinVar RCV004958689
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)