R61H (p.Arg61His) variant of SLC34A3 (Q8N130)
R61H (p.Arg61His) 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 0.32 / 1. The record also includes population frequency data and structural context.
R61H (p.Arg61His) variant details
- p.Arg61His
- 1000Genomes rs548021746
- ExAC rs548021746
- TOPMed rs548021746
- gnomAD rs548021746
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- MetaLR 0.03
- MetaSVM -1.06
- CADD 17.30
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available