M47L (p.Met47Leu) variant of HSD17B3 (P37058)
M47L (p.Met47Leu) in HSD17B3 (P37058) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
M47L (p.Met47Leu) variant details
- p.Met47Leu
- 1000Genomes rs191153391
- ESP rs191153391
- ExAC rs191153391
- TOPMed rs191153391
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.48
- MetaLR 0.63
- MetaSVM -0.25
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.40
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available