A3T (p.Ala3Thr) variant of TMEM127 (Transmembrane protein 127)
A3T (p.Ala3Thr) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar 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 0.41 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- Ensembl rs2104308614
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.30
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available