S37A (p.Ser37Ala) variant of CYP27A1 (Q02318)
S37A (p.Ser37Ala) 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.
S37A (p.Ser37Ala) variant details
- p.Ser37Ala
- gnomAD 2-218782291-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.09
- CADD 7.87
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available