P38H (p.Pro38His) variant of FMR1 (Q06787)
P38H (p.Pro38His) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P38H (p.Pro38His) variant details
- p.Pro38His
- gnomAD X-147925548-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.28
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.161
- Literature evidence available