G10D (p.Gly10Asp) variant of SLC6A19 (Q695T7)
G10D (p.Gly10Asp) in SLC6A19 (Q695T7) 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 0.36 / 1. The record also includes population frequency data and structural context.
G10D (p.Gly10Asp) variant details
- p.Gly10Asp
- rs142954960
- ClinGen CA3182536
- ClinVar RCV002582975
- ESP rs142954960
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available