K38N (p.Lys38Asn) variant of SLC6A19 (Q695T7)
K38N (p.Lys38Asn) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K38N (p.Lys38Asn) variant details
- p.Lys38Asn
- gnomAD 5-1201764-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available