D63N (p.Asp63Asn) variant of CYP11B1 (P15538)
D63N (p.Asp63Asn) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D63N (p.Asp63Asn) variant details
- p.Asp63Asn
- rs751135858
- gnomAD 8-142875329-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 6.92
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available
- Literature evidence available