I111T (p.Ile111Thr) variant of LAMP2 (P13473)
I111T (p.Ile111Thr) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
I111T (p.Ile111Thr) variant details
- p.Ile111Thr
- gnomAD rs1162557907
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.22
- CADD 18.80
- PolyPhen-2 0.34
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)