I55V (p.Ile55Val) variant of CYP11B1 (P15538)
I55V (p.Ile55Val) in CYP11B1 (P15538) is a missense 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.
I55V (p.Ile55Val) variant details
- p.Ile55Val
- rs61752793
- gnomAD 8-142875353-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0832
- CADD 0.36
- Most common in the HGDP:BIAKA population (allele frequency 0.095)
- Structural context available
- Literature evidence available