S24F (p.Ser24Phe) variant of CYP27B1 (O15528)
S24F (p.Ser24Phe) in CYP27B1 (O15528) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S24F (p.Ser24Phe) variant details
- p.Ser24Phe
- rs774009424
- NCI-TCGA Cosmic COSV9914
- ExAC rs774009424
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.34
- MetaSVM -0.58
- PolyPhen-2 0.93
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available