P25S (p.Pro25Ser) variant of KMT2E (Histone reader KMT2E)
P25S (p.Pro25Ser) 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.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- ExAC rs767867059
- gnomAD rs767867059
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.65
- CADD 28.50
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available