A31T (p.Ala31Thr) variant of FMR1 (Q06787)
A31T (p.Ala31Thr) in FMR1 (Q06787) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- NCI-TCGA Cosmic COSV9950
- cosmic curated COSV99503
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.05
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.37