A67S (p.Ala67Ser) variant of GFAP (Glial fibrillary acidic protein)
A67S (p.Ala67Ser) in GFAP (Glial fibrillary acidic protein) 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.
A67S (p.Ala67Ser) variant details
- p.Ala67Ser
- rs1364674732
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99493
- gnomAD rs1364674732
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available