A127V (p.Ala127Val) variant of RINL (Q6ZS11)
A127V (p.Ala127Val) in RINL (Q6ZS11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
A127V (p.Ala127Val) variant details
- p.Ala127Val
- ESP rs367884896
- ExAC rs367884896
- TOPMed rs367884896
- gnomAD rs367884896
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 24.30
- PolyPhen-2 0.83
- SIFT 0.08
- Population evidence available