A133T (p.Ala133Thr) variant of CHM (P24386)
A133T (p.Ala133Thr) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A133T (p.Ala133Thr) variant details
- p.Ala133Thr
- TOPMed rs1178849935
- gnomAD rs1178849935
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.15
- MetaLR 0.17
- MetaSVM -0.74
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available