D40V (p.Asp40Val) variant of PSEN2 (Presenilin-2)
D40V (p.Asp40Val) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D40V (p.Asp40Val) variant details
- p.Asp40Val
- gnomAD rs1306395711
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.41
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available