R41C (p.Arg41Cys) variant of TGM1 (P22735)
R41C (p.Arg41Cys) in TGM1 (P22735) 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 0.53 / 1. The record also includes population frequency data and structural context.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- rs776286185
- NCI-TCGA Cosmic COSV5286
- ExAC rs776286185
- TOPMed rs776286185
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.47
- CADD 23.00
- PolyPhen-2 0.97
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available