S54N (p.Ser54Asn) variant of SLC37A4 (O43826)
S54N (p.Ser54Asn) in SLC37A4 (O43826) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- gnomAD rs1240365141
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available