A203V (p.Ala203Val) variant of HSD17B3 (P37058)
A203V (p.Ala203Val) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A203V (p.Ala203Val) variant details
- p.Ala203Val
- rs119481076
- ClinGen CA117113
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10093
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Testosterone 17-beta-dehydrogenase defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.67
- MetaLR 0.79
- MetaSVM 0.72
- CADD 17.60
- PolyPhen-2 0.35
- SIFT 0.81
- 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 REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. (PMID 8075637)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)