A18A (p.Ala18Ala) variant of FMR1 (Q06787)
A18A (p.Ala18Ala) in FMR1 (Q06787) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- gnomAD X-147921935-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 12.20
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.174
- Literature evidence available