H46Y (p.His46Tyr) variant of PSEN1 (Presenilin-1)
H46Y (p.His46Tyr) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H46Y (p.His46Tyr) variant details
- p.His46Tyr
- Ensembl rs1897866471
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.57
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available