C14C (p.Cys14Cys) variant of PSEN2 (Presenilin-2)
C14C (p.Cys14Cys) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
C14C (p.Cys14Cys) variant details
- p.Cys14Cys
- gnomAD 1-226881949-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 9.05
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available