V4I (p.Val4Ile) variant of HSD17B3 (P37058)
V4I (p.Val4Ile) in HSD17B3 (P37058) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V4I (p.Val4Ile) variant details
- p.Val4Ile
- rs377018679
- ClinGen CA5140562
- cosmic curated COSV64557
- ClinVar RCV004404479
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.10
- MetaLR 0.24
- MetaSVM -0.86
- CADD 0.30
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)