E27K (p.Glu27Lys) variant of NR2E3 (Q9Y5X4)
E27K (p.Glu27Lys) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- gnomAD rs1315773209
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 21.20
- PolyPhen-2 0.16
- SIFT 0.19
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available