S20N (p.Ser20Asn) variant of C9ORF72 (Q96LT7)
S20N (p.Ser20Asn) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- Ensembl rs1044263907
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.10
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available