C21Y (p.Cys21Tyr) variant of SLC6A4 (P31645)
C21Y (p.Cys21Tyr) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
C21Y (p.Cys21Tyr) variant details
- p.Cys21Tyr
- cosmic curated COSV55570
- gnomAD rs1452608078
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.26
- MetaSVM -0.50
- CADD 16.90
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available