P43T (p.Pro43Thr) variant of FMR1 (Q06787)
P43T (p.Pro43Thr) 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 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P43T (p.Pro43Thr) variant details
- p.Pro43Thr
- NCI-TCGA Cosmic COSV5442
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.31
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.517