S13L (p.Ser13Leu) variant of SLC6A4 (P31645)
S13L (p.Ser13Leu) 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 0.28 / 1. The record also includes population frequency data and structural context.
S13L (p.Ser13Leu) variant details
- p.Ser13Leu
- rs774252706
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99911
- ExAC rs774252706
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.24
- MetaSVM -0.92
- CADD 16.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available