G21W (p.Gly21Trp) variant of NR2E3 (Q9Y5X4)
G21W (p.Gly21Trp) 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, published literature, and structural context.
G21W (p.Gly21Trp) variant details
- p.Gly21Trp
- gnomAD 15-71810804-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 18.50
- PolyPhen-2 0.29
- SIFT 0.04
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available