P38T (p.Pro38Thr) variant of FMR1 (Q06787)
P38T (p.Pro38Thr) 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 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P38T (p.Pro38Thr) variant details
- p.Pro38Thr
- NCI-TCGA Cosmic COSV5442
- NCI-TCGA Cosmic COSV9950
- cosmic curated COSV99503
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.21
- CADD 22.40
- PolyPhen-2 0.12
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.161