G11A (p.Gly11Ala) variant of TMEM127 (Transmembrane protein 127)
G11A (p.Gly11Ala) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- ExAC rs773493345
- gnomAD rs773493345
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.33
- AlphaMissense 0.33
- MetaLR 0.65
- MetaSVM 0.38
- CADD 19.10
- PolyPhen-2 0.65
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4.4e-05)
- Structural context available