S23P (p.Ser23Pro) variant of KMT2E (Histone reader KMT2E)
S23P (p.Ser23Pro) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- gnomAD 7-105041019-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.69
- CADD 25.10
- PolyPhen-2 0.33
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available