P80A (p.Pro80Ala) variant of KMT2E (Histone reader KMT2E)
P80A (p.Pro80Ala) 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.
P80A (p.Pro80Ala) variant details
- p.Pro80Ala
- gnomAD 7-105063402-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.39
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available