P6A (p.Pro6Ala) variant of KMT2E (Histone reader KMT2E)
P6A (p.Pro6Ala) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- TOPMed rs1795851048
- gnomAD rs1795851048
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.59
- CADD 20.80
- PolyPhen-2 0.13
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available