D61N (p.Asp61Asn) variant of HSD3B2 (P26439)
D61N (p.Asp61Asn) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D61N (p.Asp61Asn) variant details
- p.Asp61Asn
- gnomAD 1-119419456-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.83
- MetaLR 0.92
- MetaSVM 1.05
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available