E54D (p.Glu54Asp) variant of RINL (Q6ZS11)
E54D (p.Glu54Asp) in RINL (Q6ZS11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- gnomAD rs1329590229
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available