M197K (p.Met197Lys) variant of HSD17B3 (P37058)
M197K (p.Met197Lys) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
M197K (p.Met197Lys) variant details
- p.Met197Lys
- rs1440711824
- ClinGen CA374123888
- ClinVar RCV003459911
- Likely pathogenic
- Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.19
- MetaLR 0.31
- MetaSVM -0.75
- PolyPhen-2 0.01
- SIFT 0.01
- EVE 0.18
- ClinVar: Likely pathogenic (Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available