I6V (p.Ile6Val) variant of GFAP (Glial fibrillary acidic protein)
I6V (p.Ile6Val) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data.
I6V (p.Ile6Val) variant details
- p.Ile6Val
- TOPMed rs2051893143
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.29
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)