G57A (p.Gly57Ala) variant of C9ORF72 (Q96LT7)
G57A (p.Gly57Ala) 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 0.42 / 1. The record also includes population frequency data and structural context.
G57A (p.Gly57Ala) variant details
- p.Gly57Ala
- NCI-TCGA Cosmic COSV6615
- cosmic curated COSV66154
- Ensembl rs1819481651
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.17
- CADD 23.40
- PolyPhen-2 0.55
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available