P51L (p.Pro51Leu) variant of FMR1 (Q06787)
P51L (p.Pro51Leu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P51L (p.Pro51Leu) variant details
- p.Pro51Leu
- TOPMed rs1473910950
- gnomAD rs1473910950
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.41
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.184