A11V (p.Ala11Val) variant of C9ORF72 (Q96LT7)
A11V (p.Ala11Val) 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 0.45 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs767044830
- NCI-TCGA Cosmic COSV6615
- cosmic curated COSV66155
- ExAC rs767044830
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.29
- CADD 24.40
- PolyPhen-2 0.91
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available