H46R (p.His46Arg) variant of PSEN1 (Presenilin-1)
H46R (p.His46Arg) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H46R (p.His46Arg) variant details
- p.His46Arg
- Ensembl rs1312532981
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.60
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available