G25V (p.Gly25Val) variant of CYP11B1 (P15538)
G25V (p.Gly25Val) in CYP11B1 (P15538) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- rs1202367234
- gnomAD 8-142875375-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.077
- CADD 0.33
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available