S32N (p.Ser32Asn) variant of SLC34A3 (Q8N130)
S32N (p.Ser32Asn) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S32N (p.Ser32Asn) variant details
- p.Ser32Asn
- gnomAD 9-137232081-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- MetaLR 0.08
- MetaSVM -1.04
- CADD 6.85
- PolyPhen-2 0.10
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available