K28K (p.Lys28Lys) variant of CYP27A1 (Q02318)
K28K (p.Lys28Lys) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K28K (p.Lys28Lys) variant details
- p.Lys28Lys
- rs958713867
- gnomAD 2-218782266-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available