W32G (p.Trp32Gly) variant of NR2E3 (Q9Y5X4)
W32G (p.Trp32Gly) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
W32G (p.Trp32Gly) variant details
- p.Trp32Gly
- cosmic curated COSV10605
- ExAC rs377300789
- TOPMed rs377300789
- gnomAD rs377300789
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available