G29R (p.Gly29Arg) variant of SLC34A3 (Q8N130)
G29R (p.Gly29Arg) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- rs777567171
- ClinGen CA5364185
- ClinVar RCV000999299
- ExAC rs777567171
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- MetaLR 0.10
- MetaSVM -1.04
- CADD 34.00
- PolyPhen-2 0.92
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available