G95D (p.Gly95Asp) variant of LAMP2 (P13473)
G95D (p.Gly95Asp) in LAMP2 (P13473) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
G95D (p.Gly95Asp) variant details
- p.Gly95Asp
- ExAC rs755790073
- TOPMed rs755790073
- gnomAD rs755790073
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.17
- CADD 21.50
- PolyPhen-2 0.75
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)