V53I (p.Val53Ile) variant of FMR1 (Q06787)
V53I (p.Val53Ile) in FMR1 (Q06787) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V53I (p.Val53Ile) variant details
- p.Val53Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.05
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.18
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score 0.0023