L46V (p.Leu46Val) variant of GFAP (Glial fibrillary acidic protein)
L46V (p.Leu46Val) 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 0.34 / 1. The record also includes population frequency data.
L46V (p.Leu46Val) variant details
- p.Leu46Val
- rs1347539627
- ClinGen CA399849028
- ClinVar RCV001997441
- TOPMed rs1347539627
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)