A71P (p.Ala71Pro) variant of HSD3B2 (P26439)
A71P (p.Ala71Pro) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A71P (p.Ala71Pro) variant details
- p.Ala71Pro
- gnomAD 1-119419486-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.76
- MetaLR 0.89
- MetaSVM 1.01
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available