G121D (p.Gly121Asp) variant of LAMP2 (P13473)
G121D (p.Gly121Asp) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
G121D (p.Gly121Asp) variant details
- p.Gly121Asp
- ExAC rs772520416
- gnomAD rs772520416
- Missense
- Variant Prioritization Score for Impact Estimate 0.0828
- REVEL 0.03
- CADD 13.10
- PolyPhen-2 0.12
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)