R54G (p.Arg54Gly) variant of PSEN1 (Presenilin-1)
R54G (p.Arg54Gly) in PSEN1 (Presenilin-1) 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.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- Ensembl rs1897868217
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.42
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available