p.Val68 Gly70del variant of PSEN2 (Presenilin-2)
p.Val68 Gly70del in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val68 Gly70del variant details
- rs1400526624
- gnomAD 1-226883761-TGGGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 15.90
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available