G13E (p.Gly13Glu) variant of LAMP2 (P13473)
G13E (p.Gly13Glu) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- Ensembl rs1569374472
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.08
- CADD 16.70
- PolyPhen-2 1.00
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)