N47K (p.Asn47Lys) variant of CYP11B1 (P15538)
N47K (p.Asn47Lys) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N47K (p.Asn47Lys) variant details
- p.Asn47Lys
- Ensembl rs1817084878
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.14
- CADD 18.60
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available