A18V (p.Ala18Val) variant of FMR1 (Q06787)
A18V (p.Ala18Val) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD X-147921934-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.26
- CADD 28.70
- PolyPhen-2 0.86
- SIFT 0.01
- 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