S113L (p.Ser113Leu) variant of C9ORF72 (Q96LT7)
S113L (p.Ser113Leu) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S113L (p.Ser113Leu) variant details
- p.Ser113Leu
- gnomAD rs922724756
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.59
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available