D19N (p.Asp19Asn) variant of SLC34A3 (Q8N130)
D19N (p.Asp19Asn) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D19N (p.Asp19Asn) variant details
- p.Asp19Asn
- gnomAD 9-137231757-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- MetaLR 0.05
- MetaSVM -1.01
- CADD 9.38
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available