A60T (p.Ala60Thr) variant of RINL (Q6ZS11)
A60T (p.Ala60Thr) in RINL (Q6ZS11) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- ExAC rs754601875
- TOPMed rs754601875
- gnomAD rs754601875
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 17.60
- PolyPhen-2 0.06
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available