A72D (p.Ala72Asp) variant of NPC2 (P61916)
A72D (p.Ala72Asp) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A72D (p.Ala72Asp) variant details
- p.Ala72Asp
- gnomAD 14-74484563-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 25.60
- 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