V57I (p.Val57Ile) variant of NPC2 (P61916)
V57I (p.Val57Ile) 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; NPC2-related disorder; Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V57I (p.Val57Ile) variant details
- p.Val57Ile
- rs774036281
- ClinGen CA7268186
- ClinVar RCV001039143
- ClinVar RCV005682464
- Uncertain significance
- Inborn genetic diseases; NPC2-related disorder; Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 17.50
- PolyPhen-2 0.14
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases; NPC2-related disorder; Niemann-Pick dis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00046)
- 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)