A2T (p.Ala2Thr) variant of RINL (Q6ZS11)
A2T (p.Ala2Thr) in RINL (Q6ZS11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- TOPMed rs955326455
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 22.10
- PolyPhen-2 0.34
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available