S2A (p.Ser2Ala) variant of C9ORF72 (Q96LT7)
S2A (p.Ser2Ala) in C9ORF72 (Q96LT7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
S2A (p.Ser2Ala) variant details
- p.Ser2Ala
- NCI-TCGA TCGA novel
- TOPMed rs1819487172
- gnomAD rs1819487172
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.04
- MetaLR 0.30
- MetaSVM -0.54
- CADD 21.30
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available