Q81H (p.Gln81His) variant of NPC1 (O15118)
Q81H (p.Gln81His) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q81H (p.Gln81His) variant details
- p.Gln81His
- Ensembl rs2059212754
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.18
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available