A20V (p.Ala20Val) variant of NR2E3 (Q9Y5X4)
A20V (p.Ala20Val) 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 and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- TOPMed rs1437279949
- gnomAD rs1437279949
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 8.12
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available