T73I (p.Thr73Ile) variant of LAMP2 (P13473)
T73I (p.Thr73Ile) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
T73I (p.Thr73Ile) variant details
- p.Thr73Ile
- ExAC rs758621669
- gnomAD rs758621669
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.30
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)