R44H (p.Arg44His) variant of CYP11B1 (P15538)
R44H (p.Arg44His) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R44H (p.Arg44His) variant details
- p.Arg44His
- rs200952801
- cosmic curated COSV52825
- 1000Genomes rs200952801
- ESP rs200952801
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.07
- CADD 0.26
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:KARITIANA population (allele frequency 0.5)
- Structural context available