S124L (p.Ser124Leu) variant of SHTN1 (Shootin-1)
S124L (p.Ser124Leu) in SHTN1 (Shootin-1) 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 0.20 / 1. The record also includes population frequency data and structural context.
S124L (p.Ser124Leu) variant details
- p.Ser124Leu
- rs1168261828
- NCI-TCGA Cosmic COSV5338
- cosmic curated COSV53389
- TOPMed rs1168261828
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.01
- CADD 17.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available