N126H (p.Asn126His) variant of DNMT1 (P26358)
N126H (p.Asn126His) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
N126H (p.Asn126His) variant details
- p.Asn126His
- TOPMed rs2039023874
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.01
- CADD 5.78
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available