E10K (p.Glu10Lys) variant of PSEN2 (Presenilin-2)
E10K (p.Glu10Lys) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- cosmic curated COSV60915
- TOPMed rs1454228189
- gnomAD rs1454228189
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.58
- CADD 24.30
- PolyPhen-2 0.36
- SIFT 0.08
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available