P60P (p.Pro60Pro) variant of PSEN2 (Presenilin-2)
P60P (p.Pro60Pro) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P60P (p.Pro60Pro) variant details
- p.Pro60Pro
- rs1661149633
- gnomAD 1-226883743-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.45
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available