D128H (p.Asp128His) variant of NPC1 (O15118)
D128H (p.Asp128His) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
D128H (p.Asp128His) variant details
- p.Asp128His
- rs868224237
- ClinGen CA401785297
- ClinVar RCV002697844
- ClinVar RCV004765707
- Uncertain significance
- not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- AlphaMissense 0.06
- MetaLR 0.30
- MetaSVM -0.84
- PolyPhen-2 0.00
- SIFT 0.33
- EVE 0.12
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)