T38N (p.Thr38Asn) variant of SLC18A2 (Q05940)
T38N (p.Thr38Asn) in SLC18A2 (Q05940) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
T38N (p.Thr38Asn) variant details
- p.Thr38Asn
- gnomAD 10-117241804-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 32.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available