p.Arg26 Ala33del variant of CYP27A1 (Q02318)
p.Arg26 Ala33del in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg26 Ala33del variant details
- rs1188925314
- gnomAD 2-218782254-GGCCA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 20.30
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available