S2N (p.Ser2Asn) variant of KMT2E (Histone reader KMT2E)
S2N (p.Ser2Asn) 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 and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- Ensembl rs906058851
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.56
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available