D61T (p.Asp61Thr) variant of HSD3B2 (P26439)
D61T (p.Asp61Thr) in HSD3B2 (P26439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D61T (p.Asp61Thr) variant details
- p.Asp61Thr
- gnomAD 1-119419454-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available