A127T (p.Ala127Thr) variant of RINL (Q6ZS11)
A127T (p.Ala127Thr) in RINL (Q6ZS11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and published literature.
A127T (p.Ala127Thr) variant details
- p.Ala127Thr
- rs1972738488
- gnomAD 19-38869186-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 6.38
- Population evidence available
- Literature evidence available