P74T (p.Pro74Thr) variant of KMT2E (Histone reader KMT2E)
P74T (p.Pro74Thr) 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.
P74T (p.Pro74Thr) variant details
- p.Pro74Thr
- gnomAD rs1342798970
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.62
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available