A127E (p.Ala127Glu) variant of RINL (Q6ZS11)
A127E (p.Ala127Glu) in RINL (Q6ZS11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and published literature.
A127E (p.Ala127Glu) variant details
- p.Ala127Glu
- gnomAD 19-38869227-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 5.84
- Population evidence available
- Literature evidence available