M42K (p.Met42Lys) variant of GFAP (Glial fibrillary acidic protein)
M42K (p.Met42Lys) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
M42K (p.Met42Lys) variant details
- p.Met42Lys
- ExAC rs761756851
- gnomAD rs761756851
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 18.60
- PolyPhen-2 0.02
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)