Q23H (p.Gln23His) variant of NPC1 (O15118)
Q23H (p.Gln23His) in NPC1 (O15118) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q23H (p.Gln23His) variant details
- p.Gln23His
- Ensembl rs2059233522
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.29
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available