P5S (p.Pro5Ser) variant of NR2E3 (Q9Y5X4)
P5S (p.Pro5Ser) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- TOPMed rs2054171550
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 1.74
- PolyPhen-2 0.14
- SIFT 0.08
- Population evidence available
- Structural context available