R55C (p.Arg55Cys) variant of DNMT3A (Q9Y6K1)
R55C (p.Arg55Cys) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
R55C (p.Arg55Cys) variant details
- p.Arg55Cys
- rs2149405082
- ClinGen CA346251600
- NCI-TCGA Cosmic COSV5307
- cosmic curated COSV53078
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- AlphaMissense 0.77
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available