D52N (p.Asp52Asn) variant of SLC34A3 (Q8N130)
D52N (p.Asp52Asn) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- cosmic curated COSV63186
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- MetaLR 0.07
- MetaSVM -1.03
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available