I91V (p.Ile91Val) variant of KMT2E (Histone reader KMT2E)
I91V (p.Ile91Val) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I91V (p.Ile91Val) variant details
- p.Ile91Val
- TOPMed rs1013534993
- gnomAD rs1013534993
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.27
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available