Q60H (p.Gln60His) variant of NPC1 (O15118)
Q60H (p.Gln60His) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Q60H (p.Gln60His) variant details
- p.Gln60His
- rs145666943
- ClinGen CA8913815
- ClinVar RCV000728354
- ClinVar RCV001125610
- Conflicting interpretations
- Inborn genetic diseases; not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.66
- CADD 26.00
- PolyPhen-2 0.39
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Niemann-Pick disease, typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.01)
- 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)