K39N (p.Lys39Asn) variant of CYP27A1 (Q02318)
K39N (p.Lys39Asn) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K39N (p.Lys39Asn) variant details
- p.Lys39Asn
- gnomAD 2-218782299-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.06
- CADD 9.98
- PolyPhen-2 0.01
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available