G44E (p.Gly44Glu) variant of RP2 (Protein XRP2)
G44E (p.Gly44Glu) in RP2 (Protein XRP2) 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 and structural context.
G44E (p.Gly44Glu) variant details
- p.Gly44Glu
- TOPMed rs1556318533
- gnomAD rs1556318533
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.49
- CADD 21.30
- PolyPhen-2 0.08
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available