V57V (p.Val57Val) variant of HSD3B2 (P26439)
V57V (p.Val57Val) in HSD3B2 (P26439) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V57V (p.Val57Val) variant details
- p.Val57Val
- rs1227287596
- gnomAD 1-119419446-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 2.80
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available