K39M (p.Lys39Met) variant of CYP27A1 (Q02318)
K39M (p.Lys39Met) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K39M (p.Lys39Met) variant details
- p.Lys39Met
- gnomAD 2-218782298-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.17
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available