A16V (p.Ala16Val) variant of CYP27A1 (Q02318)
A16V (p.Ala16Val) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- gnomAD 2-218782229-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.13
- CADD 8.79
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available