A33S (p.Ala33Ser) variant of CYP27A1 (Q02318)
A33S (p.Ala33Ser) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- gnomAD 2-218782279-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.11
- CADD 6.21
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available