T57A (p.Thr57Ala) variant of LAMP2 (P13473)
T57A (p.Thr57Ala) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
T57A (p.Thr57Ala) variant details
- p.Thr57Ala
- TOPMed rs1259106557
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.04
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available