I59L (p.Ile59Leu) variant of FMR1 (Q06787)
I59L (p.Ile59Leu) 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 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I59L (p.Ile59Leu) variant details
- p.Ile59Leu
- NCI-TCGA Cosmic COSV5442
- cosmic curated COSV54427
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.17
- CADD 21.00
- PolyPhen-2 0.02
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate 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 -0.96