E54Q (p.Glu54Gln) variant of RINL (Q6ZS11)
E54Q (p.Glu54Gln) in RINL (Q6ZS11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
E54Q (p.Glu54Gln) variant details
- p.Glu54Gln
- gnomAD rs1356827626
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 22.10
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available