A20G (p.Ala20Gly) variant of NR2E3 (Q9Y5X4)
A20G (p.Ala20Gly) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- gnomAD 15-71810802-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 7.51
- PolyPhen-2 0.02
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available