P147L (p.Pro147Leu) variant of HSD17B3 (P37058)
P147L (p.Pro147Leu) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P147L (p.Pro147Leu) variant details
- p.Pro147Leu
- rs371906721
- ClinGen CA5140420
- ClinVar RCV002779217
- ESP rs371906721
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.38
- MetaLR 0.59
- MetaSVM -0.01
- CADD 20.40
- PolyPhen-2 0.22
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)