P42R (p.Pro42Arg) variant of KMT2E (Histone reader KMT2E)
P42R (p.Pro42Arg) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P42R (p.Pro42Arg) variant details
- p.Pro42Arg
- gnomAD rs1352067390
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.66
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available