P80S (p.Pro80Ser) variant of KMT2E (Histone reader KMT2E)
P80S (p.Pro80Ser) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P80S (p.Pro80Ser) variant details
- p.Pro80Ser
- gnomAD 7-105063402-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.41
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available