V50L (p.Val50Leu) variant of GFAP (Glial fibrillary acidic protein)
V50L (p.Val50Leu) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- ExAC rs754610136
- gnomAD rs754610136
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)