S54I (p.Ser54Ile) variant of SLC34A3 (Q8N130)
S54I (p.Ser54Ile) 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.
S54I (p.Ser54Ile) variant details
- p.Ser54Ile
- cosmic curated COSV63187
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- MetaLR 0.06
- MetaSVM -1.04
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available