C30G (p.Cys30Gly) variant of HSD17B3 (P37058)
C30G (p.Cys30Gly) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C30G (p.Cys30Gly) variant details
- p.Cys30Gly
- rs770504476
- ClinGen CA5140555
- cosmic curated COSV64556
- ClinVar RCV003280135
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.18
- MetaLR 0.36
- MetaSVM -0.79
- CADD 7.88
- PolyPhen-2 0.04
- SIFT 0.46
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)