A43S (p.Ala43Ser) variant of CYP27A1 (Q02318)
A43S (p.Ala43Ser) 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, published literature, and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- gnomAD 2-218782309-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.04
- CADD 13.60
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available