V23I (p.Val23Ile) variant of FMR1 (Q06787)
V23I (p.Val23Ile) in FMR1 (Q06787) 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 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- NCI-TCGA Cosmic COSV9950
- cosmic curated COSV99503
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.13
- CADD 22.20
- PolyPhen-2 0.15
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.264