S2R (p.Ser2Arg) variant of KMT2E (Histone reader KMT2E)
S2R (p.Ser2Arg) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- gnomAD 7-105040956-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.83
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available