R50Q (p.Arg50Gln) variant of DNMT3A (Q9Y6K1)
R50Q (p.Arg50Gln) 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 0.59 / 1. The record also includes population frequency data and structural context.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- rs2149405135
- ClinGen CA346251632
- cosmic curated COSV10439
- ClinVar RCV001840896
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.36
- MetaLR 0.82
- MetaSVM 0.92
- CADD 26.30
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available