A127G (p.Ala127Gly) variant of RINL (Q6ZS11)
A127G (p.Ala127Gly) in RINL (Q6ZS11) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
A127G (p.Ala127Gly) variant details
- p.Ala127Gly
- gnomAD 19-38869217-CCTTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 7.93
- Population evidence available
- Literature evidence available