R2H (p.Arg2His) variant of NPC2 (P61916)
R2H (p.Arg2His) in NPC2 (P61916) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R2H (p.Arg2His) variant details
- p.Arg2His
- TOPMed rs1471655370
- gnomAD rs1471655370
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available