G30S (p.Gly30Ser) variant of NR2E3 (Q9Y5X4)
G30S (p.Gly30Ser) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- ESP rs371396941
- TOPMed rs371396941
- gnomAD rs371396941
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 18.40
- PolyPhen-2 0.07
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available