S24L (p.Ser24Leu) variant of SHANK1 (Q9Y566)
S24L (p.Ser24Leu) in SHANK1 (Q9Y566) 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 0.32 / 1. The record also includes population frequency data and structural context.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- NCI-TCGA TCGA novel
- Ensembl rs2123209455
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -0.92
- CADD 24.60
- PolyPhen-2 0.14
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available