H43R (p.His43Arg) variant of KMT2E (Histone reader KMT2E)
H43R (p.His43Arg) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
H43R (p.His43Arg) variant details
- p.His43Arg
- Ensembl rs975418647
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.67
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available