K38E (p.Lys38Glu) variant of SLC6A19 (Q695T7)
K38E (p.Lys38Glu) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
K38E (p.Lys38Glu) variant details
- p.Lys38Glu
- gnomAD 5-1201762-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.38
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available