D91D (p.Asp91Asp) variant of NPC2 (P61916)
D91D (p.Asp91Asp) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
D91D (p.Asp91Asp) variant details
- p.Asp91Asp
- rs151071820
- gnomAD 14-74484505-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.36
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Literature evidence available