P9L (p.Pro9Leu) variant of DNMT3A (Q9Y6K1)
P9L (p.Pro9Leu) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- TOPMed rs1251105887
- gnomAD rs1251105887
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.30
- MetaLR 0.58
- MetaSVM 0.31
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available