H75R (p.His75Arg) variant of NPC2 (P61916)
H75R (p.His75Arg) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H75R (p.His75Arg) variant details
- p.His75Arg
- ESP rs369221608
- ExAC rs369221608
- TOPMed rs369221608
- gnomAD rs369221608
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 24.80
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available