N126T (p.Asn126Thr) variant of DNMT1 (P26358)
N126T (p.Asn126Thr) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
N126T (p.Asn126Thr) variant details
- p.Asn126Thr
- ExAC rs751681312
- gnomAD rs751681312
- Missense
- Variant Prioritization Score for Impact Estimate 0.0478
- REVEL 0.01
- CADD 4.47
- PolyPhen-2 0.10
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available