V31I (p.Val31Ile) variant of HSD17B3 (P37058)
V31I (p.Val31Ile) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V31I (p.Val31Ile) variant details
- p.Val31Ile
- rs2066480
- ClinGen CA5140553
- cosmic curated COSV64558
- ClinVar RCV000364639
- Benign
- not provided; Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.20
- MetaLR 0.02
- MetaSVM -0.76
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not provided; Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Benign (in dbSNP:rs2066480)
- UniProt: Benign (in dbSNP:rs2066480)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available