C132T (p.Cys132Thr) variant of CRMP1 (Q14194)
C132T (p.Cys132Thr) in CRMP1 (Q14194) 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 0.51 / 1. The record also includes population frequency data and structural context.
C132T (p.Cys132Thr) variant details
- p.Cys132Thr
- rs771581090
- ExAC rs771581090
- TOPMed rs771581090
- gnomAD rs771581090
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.18
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available