H51R (p.His51Arg) variant of KMT2E (Histone reader KMT2E)
H51R (p.His51Arg) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
H51R (p.His51Arg) variant details
- p.His51Arg
- gnomAD 7-105062244-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.49
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available