A44T (p.Ala44Thr) variant of LAMP2 (P13473)
A44T (p.Ala44Thr) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- gnomAD rs1378378776
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.39
- CADD 25.50
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available