N35S (p.Asn35Ser) variant of FMR1 (Q06787)
N35S (p.Asn35Ser) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N35S (p.Asn35Ser) variant details
- p.Asn35Ser
- gnomAD X-147921985-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.18
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.574
- Literature evidence available