E25K (p.Glu25Lys) variant of SLC6A19 (Q695T7)
E25K (p.Glu25Lys) 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 0.50 / 1. The record also includes population frequency data and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- rs770692493
- ClinGen CA3182554
- ClinVar RCV002982206
- ExAC rs770692493
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.47
- CADD 23.30
- PolyPhen-2 0.73
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available