N37D (p.Asn37Asp) variant of SLC6A19 (Q695T7)
N37D (p.Asn37Asp) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
N37D (p.Asn37Asp) variant details
- p.Asn37Asp
- gnomAD 5-1201759-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available