P51H (p.Pro51His) variant of FMR1 (Q06787)
P51H (p.Pro51His) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P51H (p.Pro51His) variant details
- p.Pro51His
- TOPMed rs1473910950
- gnomAD rs1473910950
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.53
- CADD 24.70
- PolyPhen-2 0.74
- SIFT 0.00
- 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 -0.184