P47H (p.Pro47His) variant of NPC1 (O15118)
P47H (p.Pro47His) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P47H (p.Pro47His) variant details
- p.Pro47His
- rs868790540
- gnomAD 18-23529712-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.36
- CADD 35.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available