M235V (p.Met235Val) variant of HSD17B3 (P37058)
M235V (p.Met235Val) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
M235V (p.Met235Val) variant details
- p.Met235Val
- rs119481074
- ClinGen CA117111
- ClinVar RCV000005149
- UniProt VAR 006957
- Likely pathogenic
- Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.88
- CADD 23.90
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Likely pathogenic (Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic (in MPH)
- UniProt: Pathogenic (in MPH)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. (PMID 8075637)
- Cited in: Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID 11158067)