P38S (p.Pro38Ser) variant of FMR1 (Q06787)
P38S (p.Pro38Ser) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- gnomAD X-147925547-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.20
- CADD 20.90
- PolyPhen-2 0.26
- SIFT 0.05
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.161
- Literature evidence available