H75Y (p.His75Tyr) variant of NPC2 (P61916)
H75Y (p.His75Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H75Y (p.His75Tyr) variant details
- p.His75Tyr
- rs762621803
- ClinGen CA7268164
- ClinVar RCV004516866
- ExAC rs762621803
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.20
- ESM-1b 0.65
- AlphaMissense 0.20
- CADD 11.70
- PolyPhen-2 0.11
- SIFT 0.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)