E38G (p.Glu38Gly) variant of RINL (Q6ZS11)
E38G (p.Glu38Gly) in RINL (Q6ZS11) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
E38G (p.Glu38Gly) variant details
- p.Glu38Gly
- gnomAD rs1220075487
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 23.80
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available