D112G (p.Asp112Gly) variant of LAMP2 (P13473)
D112G (p.Asp112Gly) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
D112G (p.Asp112Gly) variant details
- p.Asp112Gly
- ExAC rs759658269
- gnomAD rs759658269
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.11
- CADD 16.30
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)