E33K (p.Glu33Lys) variant of PSEN2 (Presenilin-2)
E33K (p.Glu33Lys) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- gnomAD rs1294909986
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.41
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available