P72P (p.Pro72Pro) variant of KMT2E (Histone reader KMT2E)
P72P (p.Pro72Pro) in KMT2E (Histone reader KMT2E) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P72P (p.Pro72Pro) variant details
- p.Pro72Pro
- rs764413185
- gnomAD 7-105063380-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 16.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available