G30R (p.Gly30Arg) variant of NR2E3 (Q9Y5X4)
G30R (p.Gly30Arg) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- ESP rs371396941
- TOPMed rs371396941
- gnomAD rs371396941
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 23.90
- PolyPhen-2 0.74
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available