F154L (p.Phe154Leu) variant of SHANK1 (Q9Y566)
F154L (p.Phe154Leu) 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 0.26 / 1. The record also includes population frequency data and structural context.
F154L (p.Phe154Leu) variant details
- p.Phe154Leu
- NCI-TCGA Cosmic COSV5324
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.19
- MetaLR 0.05
- MetaSVM -1.10
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available