S48N (p.Ser48Asn) variant of KMT2E (Histone reader KMT2E)
S48N (p.Ser48Asn) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S48N (p.Ser48Asn) variant details
- p.Ser48Asn
- gnomAD 7-105062235-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.43
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available