Q36K (p.Gln36Lys) variant of PSEN1 (Presenilin-1)
Q36K (p.Gln36Lys) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Q36K (p.Gln36Lys) variant details
- p.Gln36Lys
- gnomAD 14-73170815-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.46
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available