G30A (p.Gly30Ala) variant of NR2E3 (Q9Y5X4)
G30A (p.Gly30Ala) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- gnomAD 15-71810832-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 16.80
- PolyPhen-2 0.22
- SIFT 0.14
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available