D57H (p.Asp57His) variant of SLC6A4 (P31645)
D57H (p.Asp57His) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D57H (p.Asp57His) variant details
- p.Asp57His
- ExAC rs747597376
- gnomAD rs747597376
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.29
- MetaSVM -0.61
- CADD 21.90
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available