N8H (p.Asn8His) variant of SLC6A19 (Q695T7)
N8H (p.Asn8His) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N8H (p.Asn8His) variant details
- p.Asn8His
- gnomAD 5-1201672-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.53
- CADD 22.50
- PolyPhen-2 0.26
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available