P7L (p.Pro7Leu) variant of DNMT1 (P26358)
P7L (p.Pro7Leu) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- Ensembl rs1599417000
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.17
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available