S38F (p.Ser38Phe) variant of GFAP (Glial fibrillary acidic protein)
S38F (p.Ser38Phe) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
S38F (p.Ser38Phe) variant details
- p.Ser38Phe
- rs1455211354
- ClinGen CA399849069
- NCI-TCGA Cosmic COSV5365
- cosmic curated COSV53653
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 24.50
- PolyPhen-2 0.61
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)