G21R (p.Gly21Arg) variant of NR2E3 (Q9Y5X4)
G21R (p.Gly21Arg) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- gnomAD 15-71810804-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 13.50
- PolyPhen-2 0.06
- SIFT 0.16
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available