S8C (p.Ser8Cys) variant of SLC34A3 (Q8N130)
S8C (p.Ser8Cys) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S8C (p.Ser8Cys) variant details
- p.Ser8Cys
- gnomAD 9-137231724-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- MetaLR 0.04
- MetaSVM -1.04
- CADD 9.80
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available