P282L (p.Pro282Leu) variant of HSD17B3 (P37058)
P282L (p.Pro282Leu) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Testosterone 17-beta-dehydrogenase defici. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P282L (p.Pro282Leu) variant details
- p.Pro282Leu
- rs144809928
- ClinGen CA5140241
- ClinVar RCV000255975
- ClinVar RCV000583165
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Testosterone 17-beta-dehydrogenase defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.78
- MetaLR 0.76
- MetaSVM 0.63
- CADD 26.40
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Testosterone 17-beta-dehy)
- EBI: Pathogenic (in MPH)
- UniProt: Pathogenic (in MPH)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID 8550739)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)