V23V (p.Val23Val) variant of FMR1 (Q06787)
V23V (p.Val23Val) in FMR1 (Q06787) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V23V (p.Val23Val) variant details
- p.Val23Val
- rs782201022
- gnomAD X-147921950-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 10.60
- Most common in the 1KG:GWD population (allele frequency 0.0058)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.264
- Literature evidence available