K28R (p.Lys28Arg) variant of CYP27A1 (Q02318)
K28R (p.Lys28Arg) in CYP27A1 (Q02318) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K28R (p.Lys28Arg) variant details
- p.Lys28Arg
- ESP rs371449777
- ExAC rs371449777
- TOPMed rs371449777
- gnomAD rs371449777
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.21
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available