C31C (p.Cys31Cys) variant of PSEN2 (Presenilin-2)
C31C (p.Cys31Cys) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
C31C (p.Cys31Cys) variant details
- p.Cys31Cys
- rs2102668171
- gnomAD 1-226882000-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 12.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available