V35I (p.Val35Ile) variant of KMT2E (Histone reader KMT2E)
V35I (p.Val35Ile) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V35I (p.Val35Ile) variant details
- p.Val35Ile
- TOPMed rs1303754526
- gnomAD rs1303754526
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.29
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available