A40T (p.Ala40Thr) variant of CYP27A1 (Q02318)
A40T (p.Ala40Thr) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- gnomAD rs1435517185
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.06
- CADD 9.92
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available