A127D (p.Ala127Asp) variant of SLC2A2 (P11168)
A127D (p.Ala127Asp) in SLC2A2 (P11168) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A127D (p.Ala127Asp) variant details
- p.Ala127Asp
- ExAC rs760201098
- gnomAD rs760201098
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.75
- CADD 24.90
- PolyPhen-2 0.62
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available