A6T (p.Ala6Thr) variant of DNMT1 (P26358)
A6T (p.Ala6Thr) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- TOPMed rs1487433053
- gnomAD rs1487433053
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.16
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available