S54N (p.Ser54Asn) variant of SLC34A3 (Q8N130)
S54N (p.Ser54Asn) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- ExAC rs756026661
- TOPMed rs756026661
- gnomAD rs756026661
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- MetaLR 0.06
- MetaSVM -1.03
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available