E104K (p.Glu104Lys) variant of PRMT5 (O14744)
E104K (p.Glu104Lys) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E104K (p.Glu104Lys) variant details
- p.Glu104Lys
- gnomAD rs1271702337
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.33
- CADD 25.00
- PolyPhen-2 0.44
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available