G20D (p.Gly20Asp) variant of TMEM127 (Transmembrane protein 127)
G20D (p.Gly20Asp) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- gnomAD rs1295676044
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available