M35V (p.Met35Val) variant of SLC37A4 (O43826)
M35V (p.Met35Val) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucose-6-phosphate transport defect. 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.
M35V (p.Met35Val) variant details
- p.Met35Val
- ExAC rs782533083
- TOPMed rs782533083
- gnomAD rs782533083
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available