R30W (p.Arg30Trp) variant of CYP11B1 (P15538)
R30W (p.Arg30Trp) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R30W (p.Arg30Trp) variant details
- p.Arg30Trp
- cosmic curated COSV52830
- ESP rs140274628
- ExAC rs140274628
- TOPMed rs140274628
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.31
- CADD 11.00
- PolyPhen-2 0.33
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available