Y35H (p.Tyr35His) variant of NPC1 (O15118)
Y35H (p.Tyr35His) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
Y35H (p.Tyr35His) variant details
- p.Tyr35His
- ExAC rs759005000
- TOPMed rs759005000
- gnomAD rs759005000
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.11
- CADD 7.25
- PolyPhen-2 0.02
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available