R60L (p.Arg60Leu) variant of PSEN1 (Presenilin-1)
R60L (p.Arg60Leu) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R60L (p.Arg60Leu) variant details
- p.Arg60Leu
- gnomAD 14-73170888-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.34
- CADD 4.32
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available