A2T (p.Ala2Thr) variant of CYP27A1 (Q02318)
A2T (p.Ala2Thr) 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 and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- TOPMed rs1943396546
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.26
- CADD 23.50
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available