R119T (p.Arg119Thr) variant of DNMT1 (P26358)
R119T (p.Arg119Thr) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R119T (p.Arg119Thr) variant details
- p.Arg119Thr
- ExAC rs777666240
- gnomAD rs777666240
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.04
- CADD 8.24
- PolyPhen-2 0.18
- SIFT 0.35
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available