S2L (p.Ser2Leu) variant of C9ORF72 (Q96LT7)
S2L (p.Ser2Leu) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- ESP rs149095486
- ExAC rs149095486
- TOPMed rs149095486
- gnomAD rs149095486
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.27
- CADD 24.70
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available