T120A (p.Thr120Ala) variant of LAMP2 (P13473)
T120A (p.Thr120Ala) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
T120A (p.Thr120Ala) variant details
- p.Thr120Ala
- Ensembl rs1921042918
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.22
- AlphaMissense 0.11
- MetaLR 0.15
- MetaSVM -0.85
- CADD 20.90
- PolyPhen-2 0.88
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)