S11W (p.Ser11Trp) variant of FH (P07954)
S11W (p.Ser11Trp) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S11W (p.Ser11Trp) variant details
- p.Ser11Trp
- rs1226883651
- ClinGen CA345443020
- NCI-TCGA Cosmic COSV6381
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.40
- AlphaMissense 0.21
- MetaLR 0.88
- MetaSVM 0.71
- CADD 14.50
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)