M130T (p.Met130Thr) variant of CYP27A1 (Q02318)
M130T (p.Met130Thr) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
M130T (p.Met130Thr) variant details
- p.Met130Thr
- TOPMed rs1169227791
- gnomAD rs1169227791
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.73
- AlphaMissense 0.43
- MetaLR 0.46
- MetaSVM -0.12
- CADD 26.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available