D91N (p.Asp91Asn) variant of NPC2 (P61916)
D91N (p.Asp91Asn) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D91N (p.Asp91Asn) variant details
- p.Asp91Asn
- rs148607507
- ClinGen CA7268155
- ClinVar RCV000338408
- ClinVar RCV000763944
- Uncertain significance
- Inborn genetic diseases; not provided; Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.10
- PolyPhen-2 0.36
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Niemann-Pick disease, typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00073)
- 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)