D91Y (p.Asp91Tyr) variant of NPC2 (P61916)
D91Y (p.Asp91Tyr) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
D91Y (p.Asp91Tyr) variant details
- p.Asp91Tyr
- gnomAD 14-74484507-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available