R9L (p.Arg9Leu) variant of DNMT1 (P26358)
R9L (p.Arg9Leu) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- cosmic curated COSV10053
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.18
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.10
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available