D31V (p.Asp31Val) variant of PSEN1 (Presenilin-1)
D31V (p.Asp31Val) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D31V (p.Asp31Val) variant details
- p.Asp31Val
- gnomAD 14-73170801-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.58
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available