P60L (p.Pro60Leu) variant of PSEN2 (Presenilin-2)
P60L (p.Pro60Leu) in PSEN2 (Presenilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P60L (p.Pro60Leu) variant details
- p.Pro60Leu
- gnomAD 1-226883739-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 23.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available