H75L (p.His75Leu) variant of NPC2 (P61916)
H75L (p.His75Leu) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
H75L (p.His75Leu) variant details
- p.His75Leu
- ESP rs369221608
- ExAC rs369221608
- TOPMed rs369221608
- gnomAD rs369221608
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.55
- CADD 25.50
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available