G28D (p.Gly28Asp) variant of NPC2 (P61916)
G28D (p.Gly28Asp) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- TOPMed rs1443294832
- gnomAD rs1443294832
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available