D63G (p.Asp63Gly) variant of FMR1 (Q06787)
D63G (p.Asp63Gly) in FMR1 (Q06787) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D63G (p.Asp63Gly) variant details
- p.Asp63Gly
- rs782202548
- ClinGen CA10536069
- ClinVar RCV002273365
- ClinVar RCV005930203
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.33
- CADD 24.30
- PolyPhen-2 0.25
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.793