D37D (p.Asp37Asp) variant of NPC1 (O15118)
D37D (p.Asp37Asp) in NPC1 (O15118) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
D37D (p.Asp37Asp) variant details
- p.Asp37Asp
- rs376719486
- gnomAD 18-23529726-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 4.97
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available