C21C (p.Cys21Cys) variant of CYP27A1 (Q02318)
C21C (p.Cys21Cys) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C21C (p.Cys21Cys) variant details
- p.Cys21Cys
- rs781222632
- gnomAD 2-218782245-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.218
- AlphaMissense 0.16
- MetaLR 0.23
- MetaSVM -0.78
- CADD 8.44
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available