A34S (p.Ala34Ser) variant of CYP27A1 (Q02318)
A34S (p.Ala34Ser) 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.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- gnomAD 2-218782282-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.04
- CADD 13.00
- PolyPhen-2 0.02
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available