S44P (p.Ser44Pro) variant of SLC6A4 (P31645)
S44P (p.Ser44Pro) in SLC6A4 (P31645) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S44P (p.Ser44Pro) variant details
- p.Ser44Pro
- NCI-TCGA Cosmic COSV5556
- cosmic curated COSV55566
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.15
- MetaSVM -0.87
- CADD 23.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available