L50V (p.Leu50Val) variant of PSEN1 (Presenilin-1)
L50V (p.Leu50Val) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- gnomAD rs1897867823
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.48
- CADD 8.62
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available