P43S (p.Pro43Ser) variant of GFAP (Glial fibrillary acidic protein)
P43S (p.Pro43Ser) 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 0.35 / 1. The record also includes population frequency data.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- rs368169263
- 1000Genomes rs368169263
- ExAC rs368169263
- TOPMed rs368169263
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 6.92
- PolyPhen-2 0.00
- SIFT 0.43
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)