N98H (p.Asn98His) variant of NPC2 (P61916)
N98H (p.Asn98His) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of NPC2-related disorder; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N98H (p.Asn98His) variant details
- p.Asn98His
- rs142858704
- ClinGen CA7268151
- ClinVar RCV000439975
- ClinVar RCV000763943
- Uncertain significance
- NPC2-related disorder; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.09
- ESM-1b 0.94
- AlphaMissense 0.10
- CADD 16.60
- PolyPhen-2 0.03
- SIFT 0.13
- ClinVar: Uncertain significance (NPC2-related disorder; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- 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)