D104D (p.Asp104Asp) variant of NPC2 (P61916)
D104D (p.Asp104Asp) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D104D (p.Asp104Asp) variant details
- p.Asp104Asp
- rs751455041
- gnomAD 14-74484466-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 9.22
- Population evidence available
- Structural context available
- Literature evidence available