D37G (p.Asp37Gly) variant of SLC12A1 (Q13621)
D37G (p.Asp37Gly) in SLC12A1 (Q13621) 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 0.14 / 1. The record also includes population frequency data and structural context.
D37G (p.Asp37Gly) variant details
- p.Asp37Gly
- rs774355538
- ClinGen CA7546690
- ClinVar RCV002028321
- ExAC rs774355538
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -0.99
- CADD 3.87
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available