N48K (p.Asn48Lys) variant of FAS (P25445)
N48K (p.Asn48Lys) in FAS (P25445) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
N48K (p.Asn48Lys) variant details
- p.Asn48Lys
- gnomAD 10-89003142-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 7.79
- PolyPhen-2 0.21
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available